- Feb 2021
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jmg.bmj.com jmg.bmj.com
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Supplemental material
AssayResult: 5.1
AssayResultAssertion: Abnormal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 17.1
AssayResultAssertion: Normal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 3.2
AssayResultAssertion: Abnormal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 3.5
AssayResultAssertion: Abnormal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 4.1
AssayResultAssertion: Abnormal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 2.9
AssayResultAssertion: Abnormal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 6.1
AssayResultAssertion: Abnormal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 12.9
AssayResultAssertion: Normal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 4.7
AssayResultAssertion: Abnormal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 7.1, 6.0
AssayResultAssertion: Abnormal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 3.1
AssayResultAssertion: Abnormal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 5.4
AssayResultAssertion: Abnormal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 5
AssayResultAssertion: Abnormal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 4.8
AssayResultAssertion: Abnormal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 3.8
AssayResultAssertion: Abnormal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 3.2
AssayResultAssertion: Abnormal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 82
AssayResultAssertion: Normal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 80
AssayResultAssertion: Normal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 69
AssayResultAssertion: Normal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 99
AssayResultAssertion: Normal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 98
AssayResultAssertion: Normal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 77
AssayResultAssertion: Normal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 105
AssayResultAssertion: Normal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 96
AssayResultAssertion: Normal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 104
AssayResultAssertion: Normal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 99
AssayResultAssertion: Normal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 83
AssayResultAssertion: Normal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 91
AssayResultAssertion: Normal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 86
AssayResultAssertion: Normal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 56
AssayResultAssertion: Normal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 61
AssayResultAssertion: Normal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 51
AssayResultAssertion: Normal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 66
AssayResultAssertion: Normal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 60
AssayResultAssertion: Normal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 65
AssayResultAssertion: Normal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 66
AssayResultAssertion: Normal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 45
AssayResultAssertion: Normal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 58
AssayResultAssertion: Normal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 49
AssayResultAssertion: Normal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 83
AssayResultAssertion: Normal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 84
AssayResultAssertion: Normal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 91
AssayResultAssertion: Normal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 94
AssayResultAssertion: Normal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 97
AssayResultAssertion: Normal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 98
AssayResultAssertion: Normal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 96
AssayResultAssertion: Normal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 105
AssayResultAssertion: Normal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 6.4
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 6.8
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 7.1
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 7.7
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.572C>G p.(Pro191Arg)
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Supplemental material
AssayResult: 3.5
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 3.1
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 5
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 4.4
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 4.2
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 4.1
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 3.5
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 4.9
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 5.4
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 6.7
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 10.8
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 4.9
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 4.9
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 8.6
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 4
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 6
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 5.4
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 5.8
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 7.1
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 5.5
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 2.8
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 2
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 2.8
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 3.1
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 5.6
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 3.5
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 5.8
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
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We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.*1175A>C
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We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.-117G>T
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We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.792_794del p.(Leu265del)
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We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.393_395del p.(Asn131del)
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We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.323_325del p.(Gly108_Phe109delinsVal)
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We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.1054G>T p.(Asp352Tyr)
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We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.1043T>C p.(Leu348Ser)
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We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.847C>T p.(Arg283Cys)
-
We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.833C>G p.(Pro278Arg)
-
We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.329G>A p.(Arg110His)
-
We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.472C>T p.(Arg158Cys)
-
We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.402T>G p.(Phe134Leu)
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We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.723del p.(Cys242Alafs*5)
-
We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.314G>A p.(Gly105Asp)
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We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.215C>A p.(Pro72His)
-
We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.704A>G p.(Asn235Ser)
-
We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.770del p.(Leu257Argfs*88)
-
We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.375G>A p.?
-
We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.542G>A p.(Arg181His)
-
We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.1010G>A p.(Arg337His)
-
We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.910A>G p.(Thr304Ala)
-
We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.904G>A p.(Gly302Arg)
-
We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.455del p.(Pro152Argfs*18)
-
We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.869G>A p.(Arg290His)
-
We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.845G>C p.(Arg282Pro)
-
We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.685T>C p.(Cys229Arg)
-
We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.646G>A p.(Val216Met)
-
We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.578A>C p.(His193Pro)
-
We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.577C>G p.(His193Asp)
-
We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.523C>G p.(Arg175Gly)
-
We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.323G>A p.(Gly108Asp)
-
We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.31G>C p.(Glu11Gln)
-
We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.820del p.(Val274Phefs*71)
-
We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.690del p.(Thr231Profs*16)
-
We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.673-2A>G p.?
-
We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.632_641del p.(Thr211Ilefs*33)
-
We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.491_494del p.(Lys164Serfs*5)
-
We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.742C>T p.(Arg248Trp)
-
We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.323_329dup p.(Leu111Phefs*40)
-
We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.216dup p.(Val73Argfs*76)
-
We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.818G>A p.(Arg273His)
-
We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.743G>A p.(Arg248Gln)
-
We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.524G>A p.(Arg175His)
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Supplemental material
AssayResult: 52
AssayResultAssertion: Abnormal
Comment: See Table S3 for details; The blood sample used to test this variant was derived from an individual carrying the c.723del variant in combination with the c.*1175A>C variant in heterozygosity.
-
We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM000546.5:c.(?-202)(*1207?)del p.?
Comment: A CAID could not be generated for this deletion variant with uncertain breakpoints.
Tags
- Variant:22
- Variant:14
- ClinVarID:142702
- ClinVarID:481148
- Variant:3
- CAID:CA000382
- CAID:CA16620623
- CAID:CA000251
- Variant:17
- Variant:23
- Variant:12
- Variant:41
- ClinVarID:12374
- ClinVarID:100815
- Variant:5
- ClinVarID:141114
- CAID:CA000454
- Variant:19
- Variant:43
- ClinVarID:428860
- Variant:15
- CAID:CA397837761
- FuncAssay:3
- Variant:6
- CAID:CA000457
- CAID:CA000123
- CAID:CA397842793
- CAID:CA1139768486
- Variant:29
- Variant:8
- ClinVarID:12364
- FuncAssay:1
- ClinVarID:41723
- CAID:CA645588451
- ClinVarID:127812
- ClinVarID:142320
- CAID:CA000073
- ClinVarID:12356
- Variant:28
- CAID:CA497717451
- ClinVarID:182965
- Variant:38
- Variant:46
- Variant:48
- ValidationControl:Benign
- CAID:CA000343
- Variant:16
- Variant:32
- ClinVarID:376612
- CGType:Variant
- ClinVarID:246343
- CAID:CA000374
- Variant:30
- ClinVarID:127825
- CAID:CA000102
- ClinVarID:127815
- FuncAssay:2
- ClinVarID:420137
- ClinVarID:376649
- Variant:24
- Variant:4
- Variant:34
- ClinVarID:127808
- ClinVarID:376644
- ClinVarID:127821
- Variant:50
- CAID:CA645369686
- Variant:2
- ClinVarID:12366
- CAID:CA1139768484
- ClinVarID:376659
- CAID:CA1139768485
- CAID:CA397832246
- Variant:1
- Variant:40
- ClinVarID:182957
- Variant:20
- CAID:CA397844631
- ClinVarID:135359
- Variant:11
- CAID:CA16603061
- Variant:37
- Variant:44
- ClinVarID:458555
- CAID:CA1139768487
- ClinVarID:12347
- Variant:45
- Variant:21
- CAID:CA10584593
- CAID:CA16603034
- CAID:CA497716198
- Variant:26
- CAID:CA397832401
- Variant:18
- CAID:CA000225
- CAID:CA16603066
- Variant:42
- FuncAssay:4
- ClinVarID:127816
- ClinVarID:185120
- CGType:FunctionalAssayResult
- Variant:25
- CAID:CA645588668
- Variant:39
- CAID:CA000434
- ClinVarID:127824
- CAID:CA000106
- CAID:CA645588993
- ClinVarID:376613
- Variant:35
- CAID:CA000256
- CAID:CA16603033
- CAID:CA000259
- CAID:CA397836336
- ClinVarID:35555
- CAID:CA497925664
- CAID:CA000387
- CAID:CA000302
- CAID:CA16603074
- Variant:47
- ClinVarID:12379
- CAID:CA000493
- Variant:9
- CAID:CA000272
- ValidationControl:Pathogenic
- CAID:CA000308
- Variant:49
- CAID:CA000013
- Variant:27
- CAID:CA000468
- CAID:CA397839547
- Variant:51
- CAID:CA000071
- Variant:10
- Variant:13
- ClinVarID:177825
- Variant:33
- Variant:31
- CAID:CA000049
- ClinVarID:634779
- Variant:7
- Variant:36
- CAID:CA000144
Annotators
URL
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www.theguardian.com www.theguardian.com
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Travel bans aren’t an effective response to the new Covid variant | Angela Rasmussen. (2020, December 23). The Guardian. http://www.theguardian.com/commentisfree/2020/dec/23/travel-bans-effective-new-covid-variant
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www.theguardian.com www.theguardian.com
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Here’s what we know about the new variant of coronavirus | Sharon Peacock. (2020, December 22). The Guardian. http://www.theguardian.com/commentisfree/2020/dec/22/new-variant-coronavirus-genomic-sars-cov-2-pandemic
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www.latimes.com www.latimes.com
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Facebook, Twitter, options, S. more sharing, Facebook, Twitter, LinkedIn, Email, URLCopied!, C. L., & Print. (2021, February 23). California’s coronavirus strain looks increasingly dangerous: ‘The devil is already here’. Los Angeles Times. https://www.latimes.com/science/story/2021-02-23/california-homegrown-coronavirus-strain-looks-increasingly-transmissible-and-dangerous
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www.nature.com www.nature.com
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Callaway, E. (2021). ‘A bloody mess’: Confusion reigns over naming of new COVID variants. Nature, 589(7842), 339–339. https://doi.org/10.1038/d41586-021-00097-w
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brief19.com brief19.com
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Vaccinations Could Limit Further Mutations. (n.d.). Retrieved 18 February 2021, from https://brief19.com/2021/02/17/brief
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www.newscientist.com www.newscientist.com
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Lawton, G. (n.d.). Exclusive: Two variants have merged into heavily mutated coronavirus. New Scientist. Retrieved 17 February 2021, from https://www.newscientist.com/article/2268014-exclusive-two-variants-have-merged-into-heavily-mutated-coronavirus/
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www.nytimes.com www.nytimes.com
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Zimmer, C. (2021, February 14). 7 Virus Variants Found in U.S. Carrying the Same Mutation. The New York Times. https://www.nytimes.com/2021/02/14/health/coronavirus-variants-evolution.html
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www.medrxiv.org www.medrxiv.org
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Hodcroft, E. B., Domman, D. B., Oguntuyo, K., Snyder, D. J., Diest, M. V., Densmore, K. H., Schwalm, K. C., Femling, J., Carroll, J. L., Scott, R. S., Whyte, M. M., Edwards, M. D., Hull, N. C., Kevil, C. G., Vanchiere, J. A., Lee, B., Dinwiddie, D. L., Cooper, V. S., & Kamil, J. P. (2021). Emergence in late 2020 of multiple lineages of SARS-CoV-2 Spike protein variants affecting amino acid position 677. MedRxiv, 2021.02.12.21251658. https://doi.org/10.1101/2021.02.12.21251658
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Mannix, L. (2021, February 8). Where did these COVID-19 variants come from – and what are they? The Sydney Morning Herald. https://www.smh.com.au/national/what-do-new-variants-of-the-coronavirus-mean-for-us-20210126-p56wuo.html
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cmmid.github.io cmmid.github.io
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Estimated transmissibility and severity of novel SARS-CoV-2 Variant of Concern 202012/01 in England. (2020, December 23). CMMID Repository. https://cmmid.github.io/topics/covid19/uk-novel-variant.html
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www.scientificamerican.com www.scientificamerican.com
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Cormier, Z. (n.d.). The Second-Generation COVID Vaccines Are Coming. Scientific American. Retrieved 11 February 2021, from https://www.scientificamerican.com/article/the-second-generation-covid-vaccines-are-coming/
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www.bbc.co.uk www.bbc.co.uk
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Covid vaccines extremely safe, finds UK regulator. (2021, February 5). BBC News. https://www.bbc.com/news/health-55946912
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papers.ssrn.com papers.ssrn.com
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Shen, X., Tang, H., McDanal, C., Wagh, K., Fischer, W. M., Theiler, J., Yoon, H., Li, D., Haynes, B. F., Saunders, K. O., Gnanakaran, S., Hengartner, N. W., Pajon, R., Smith, G., Dubovsky, F., Glenn, G. M., Korber, B. T., & Montefiori, D. C. (2021). SARS-CoV-2 Variant B.1.1.7 is Susceptible to Neutralizing Antibodies Elicited by Ancestral Spike Vaccines (SSRN Scholarly Paper ID 3777473). Social Science Research Network. https://papers.ssrn.com/abstract=3777473
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Local file Local file
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En cas de survenue d’un cas confirmé portant la variante britannique du SARS-CoV-2Conformément à l’avis du Conseil Scientifique, la confirmation d’un cas de variante britannique du virus SARS-CoV2 dans une classe doit conduire à la fermeture de la classe, dans les établissements d’enseignement du premier degré et du second degré. Les élèves de la classe sont donc assimilés à des contacts à risque. L’identification des contacts à risque parmi les personnels se fait dans les conditions décrites selon les règles définies par Santé publique France
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- Jan 2021
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www.sciencemag.org www.sciencemag.org
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KupferschmidtJan. 15, K., 2021, & Pm, 4:55. (2021, January 15). New coronavirus variants could cause more reinfections, require updated vaccines. Science | AAAS. https://www.sciencemag.org/news/2021/01/new-coronavirus-variants-could-cause-more-reinfections-require-updated-vaccines
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This variant presents 14 non-synonymous mutations, 6 synonymous mutations and 3 deletions. The multiple mutations present in the viral RNA encoding for the spike protein (S) are of most concern, such as the deletion Δ69-70, deletion Δ144, N501Y, A570D, D614G, P681H, T716I, S982A, D1118H
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medrxiv.org medrxiv.org
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What would be the limit of detection of the new variants in the wastewater by this NGS based sequencing method?
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- Dec 2020
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getmdl.io getmdl.io
- Nov 2020
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stackoverflow.com stackoverflow.com
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github.com github.com
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If you would like a process management tool with a lot of features, including tmux support, restarting and killing individual processes and advanced configuration, you should take a look at Hivemind's big brother — Overmind!
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github.com github.com
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If a lot of those features seem like overkill for you, especially the tmux integration, you should take a look at Overmind's little sister — Hivemind!
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- Oct 2020
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github.com github.com
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// `lodash/padStart` accepts an optional `chars` param. _.padStart('a', 3, '-') // ➜ '--a' // `lodash/fp/padStart` does not. fp.padStart(3)('a'); // ➜ ' a'
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The lodash/fp module promotes a more functional programming (FP) friendly style by exporting an instance of lodash with its methods wrapped to produce immutable auto-curried iteratee-first data-last methods.
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- Sep 2020
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localhost:8001 localhost:8001
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variant id lookup result: http://localhost:8001/test.html
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www.medrxiv.org www.medrxiv.org
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Blokland, I. V. van, Lanting, P., Ori, A. P., Vonk, J. M., Warmerdam, R. C., Herkert, J. C., Boulogne, F., Claringbould, A., Lopera-Maya, E. A., Bartels, M., Hottenga, J.-J., Ganna, A., Karjalainen, J., Study, L. C.-19 cohort, Initiative, T. C.-19 H. G., Hayward, C., Fawns-Ritchie, C., Campbell, A., Porteous, D., … Franke, L. H. (2020). Using symptom-based case predictions to identify host genetic factors that contribute to COVID-19 susceptibility. MedRxiv, 2020.08.21.20177246. https://doi.org/10.1101/2020.08.21.20177246
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- Aug 2020
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Qu, J., Cai, Z., Liu, Y., Duan, X., Han, S., Zhu, Y., Jiang, Z., Zhang, Y., Zhuo, C., Liu, Y., Liu, Y., Liu, L., & Yang, L. (2020). Persistent bacterial coinfection of a COVID-19 patient caused by a genetically adapted Pseudomonas aeruginosa chronic colonizer. BioRxiv, 2020.08.05.238998. https://doi.org/10.1101/2020.08.05.238998
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- Jul 2020
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en.wikipedia.org en.wikipedia.org
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One representative example, from the U.S. Navy, is "COMCRUDESPAC", which stands for "commander, cruisers destroyers Pacific"; it is also seen as "ComCruDesPac"
ComCruDesPac is much preferrable. Just like I prefer CoViD-19 over COVID-19, so you can actually visually see the 3 words that the acronym is built from.
Tags
Annotators
URL
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www.biorxiv.org www.biorxiv.org
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Yurkovetskiy, L., Wang, X., Pascal, K. E., Tomkins-Tinch, C., Nyalile, T., Wang, Y., Baum, A., Diehl, W. E., Dauphin, A., Carbone, C., Veinotte, K., Egri, S. B., Schaffner, S. F., Lemieux, J. E., Munro, J., Rafique, A., Barve, A., Sabeti, P. C., Kyratsous, C. A., … Luban, J. (2020). Structural and Functional Analysis of the D614G SARS-CoV-2 Spike Protein Variant. BioRxiv, 2020.07.04.187757. https://doi.org/10.1101/2020.07.04.187757
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bugs.ruby-lang.org bugs.ruby-lang.org
- Apr 2020
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github.com github.com
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The aim of this list is to document all Markdown syntax variations (rather than implementations).
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- Jan 2020
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www.sciencedirect.com www.sciencedirect.com
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www.sciencedirect.com www.sciencedirect.com
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variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692266/
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variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692269/
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variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692269/
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variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692266/
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variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692268/
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692266/
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variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692266/
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gregory.equul.us gregory.equul.us
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Πατρὸς
Note the juxtaposed prosodic variants:
- Πατρός (2: trochee – ⏑; 4: pyrrhus ⏑ ⏑; 7: spondee – –)
- λόγον (1: pyrrhus ⏑ ⏑, 3: iamb ⏑ –, lengthened by position)
- τόσον, ὅσσον, τόσσον (9, 11)
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- Dec 2019
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www.sciencedirect.com www.sciencedirect.com
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variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/547946/
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variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692227/
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variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/547947/
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variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/547947/
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variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/599396/
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variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/692228/
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www.sciencedirect.com www.sciencedirect.com
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/634924/
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variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/545116/
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- Oct 2019
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riojournal.com riojournal.com
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fata
data
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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variant id lookup result: https://www.ncbi.nlm.nih.gov/clinvar/variation/559601/
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- Sep 2019
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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variant id lookup result
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variant id lookup result
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variant id lookup result
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- Nov 2017
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www.genome.gov www.genome.gov
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Introduction to Population Genetics
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