90 Matching Annotations
  1. Last 7 days
  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Temporal Genomic Analysis of Homogeneous Tumor Models Reveals Key Regulators of Immune Evasion in Melanoma
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    pmc.ncbi.nlm.nih.gov/articles/PMC11873729/
  3. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Single-cell whole-genome sequencing reveals convergent evolution in Burkitt lymphoma
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    pmc.ncbi.nlm.nih.gov/articles/PMC13402838/
  4. Jul 2026
  5. aacrjournals.org aacrjournals.org
    Uniform processing of diverse sequencing data: A cross-population comparison of colon cancer genomic landscapes from The Cancer Genome Atlas and a Chinese cohort
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    aacrjournals.org/cebp/article/35/5/762/784356/Uniform-Processing-of-Diverse-Sequencing-Data-A
  6. Jun 2026
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    Phase IB/II Trial with Correlative Analyses of Doxorubicin plus Durvalumab Combination in Patients with Advanced Soft Tissue Sarcoma
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    aacrjournals.org/clincancerres/article/32/9/1686/783981/Phase-IB-II-Trial-with-Correlative-Analyses-of
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    Evolution of AR and non-AR alterations in circulating tumor DNA of metastatic prostate cancer patients treated in the phase 3 Alliance A031201 trial
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    pmc.ncbi.nlm.nih.gov/articles/PMC13266347/
  9. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Deep mutational scanning reveals pharmacologically relevant insights into TYK2 signaling and disease
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    pmc.ncbi.nlm.nih.gov/articles/PMC13252953/
  10. May 2026
  11. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Long-read genome sequencing improves detection and functional interpretation of structural and repeat variants in autism
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  12. www.thelancet.com www.thelancet.com
    Identification of the ACTB p.Ser348Leu de novo variant in individuals with syndromic neonatal diabetes
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    thelancet.com/journals/ebiom/article/PIIS2352-3964(26)00168-4/abstract
  13. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Integrated Single-Cell Whole-Genome Sequencing and Spatial Transcriptomics Reveal Intratumoral Heterogeneity in Ovarian Cancer
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    pmc.ncbi.nlm.nih.gov/articles/PMC13137417/
  14. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Out-of-frame CBX3::ALK fusion drives ALK activation and therapy response
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    pmc.ncbi.nlm.nih.gov/articles/PMC13130619/
  15. Apr 2026
  16. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Preclinical Combination Targeting VEGF and PI3K in a Rare, Aggressive Mixed Endometrial Carcinoma: An Applied Case Report
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    pmc.ncbi.nlm.nih.gov/articles/PMC13081119/
  17. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Dissection of Gαs and Hedgehog Signaling Cross-talk Reveals Therapeutic Opportunities to Target Hedgehog-Dependent Tumors
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    pmc.ncbi.nlm.nih.gov/articles/PMC13055637/
  18. Feb 2026
  19. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    BICC1 interacts with PKD1 and PKD2 to drive cystogenesis in ADPKD
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    pmc.ncbi.nlm.nih.gov/articles/PMC12900513/
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    The Smarcal1-Usp37 locus modulates glycogen aggregation in astrocytes of the aged hippocampus
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    sciencedirect.com/science/article/pii/S2405471225003217
  21. Jan 2026
  22. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Exploring a genetic basis for the metabolic perturbations in ME/CFS using UK biobank
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    Multi-omics identifies oxidative stress, prothrombotic pathways, and lactoperoxidase variants as key factors in COVID-19 severity
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    sciencedirect.com/science/article/pii/S2352396425005614
  24. Dec 2025
  25. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Long-term Survival and Molecular Biomarker Evaluation of a Phase II Cetuximab and Nivolumab Clinical Trial in Recurrent/Metastatic Head and Neck Cancer
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    pmc.ncbi.nlm.nih.gov/articles/PMC12667737/
  26. Nov 2025
  27. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Tumor-Informed ctDNA Assay to Predict Outcome in Recurrent and/or Metastatic Squamous Cell Carcinoma of the Head and Neck Treated with PD-1 Inhibitor
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  28. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Contribution of next generation sequencing to the diagnosis of inborn errors of immunity in a pediatric cohort
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    pmc.ncbi.nlm.nih.gov/articles/PMC12580210/
  29. Oct 2025
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    CD40 agonist mitazalimab with mFOLFIRINOX in untreated metastatic pancreatic cancer: Biomarkers associated with outcomes from OPTIMIZE-1
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    sciencedirect.com/science/article/pii/S266637912500480X
  31. Sep 2025
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    Human papillomavirus integration induces oncogenic host gene fusions in oropharyngeal cancers
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  33. Aug 2025
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    AI-driven multimodal algorithm predicts immunotherapy and targeted therapy outcomes in clear cell renal cell carcinoma
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    PARKIN protein-deficient iPSC line (FINi006-A) from an early-onset Parkinson’s disease female patient
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  36. Jul 2025
  37. 52.53.155.43 52.53.155.43
    Acquired dysfunction of CFTR underlies cystic fibrosis-like disease of the canine gallbladder. | American Journal of Physiology-Gastrointestinal and Liver Physiology
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    Clinical Significance of TERT Promoter Mutations in Neuroblastoma
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  39. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Genomic and epigenomic analysis of plasma cell-free DNA identifies stemness features associated with worse survival in lethal prostate cancer
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    Molecular and genetic evidence for the role of AMBRA1 in suppressing S-phase entry and tumorigenesis - ScienceDirect-html.html
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    Identifying candidate genetic variants for egg number by analyzing over 1,000 fully sequenced layers
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  42. Jun 2025
  43. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Single-Cell Transcriptomic Landscape Deciphers Intratumoral Heterogeneity and Subtypes of Acral and Mucosal Melanomas
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  44. May 2025
  45. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Convergent Genetic Adaptation in Human Tumors Developed Under Systemic Hypoxia and in Populations Living at High Altitudes
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  46. Apr 2025
  47. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Stratified Medicine Pediatrics: Cell-Free DNA and Serial Tumor Sequencing Identifies Subtype-Specific Cancer Evolution and Epigenetic States
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  48. Mar 2025
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    The LRRK2 p.L1795F variant causes Parkinson’s disease in the European population
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  50. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    23ME-01473, an Fc Effector–Enhanced Anti-ULBP6/2/5 Antibody, Restores NK Cell–Mediated Antitumor Immunity through NKG2D and FcγRIIIa Activation
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  51. Feb 2025
  52. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Fusion oncoproteins and cooperating mutations define disease phenotypes in NUP98-rearranged leukemia
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  53. aacrjournals.org aacrjournals.org
    The innate immune landscape of dMMR/MSI cancers predicts outcome of nivolumab treatment: results from the Drug Rediscovery Protocol
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    aacrjournals.org/clincancerres/article/30/19/4339/748545/The-Innate-Immune-Landscape-of-dMMR-MSI-Cancers
  54. Dec 2024
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    Pan-Cancer Analysis of Homologous Recombination Deficiency in Cell Lines
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  56. www.mdpi.com www.mdpi.com
    Biliverdinuria Caused by Exonic BLVRA Deletions in Two Dogs with Green Urine
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  57. Nov 2024
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  59. Aug 2024
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    Genetic association with autoimmune diseases identifies molecular mechanisms of coronary artery disease
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    Drought-induced molecular changes in crown of various barley phytohormone mutants
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  62. academic.oup.com academic.oup.com
    Korea4K: whole genome sequences of 4,157 Koreans with 107 phenotypes derived from extensive health check-ups
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    academic.oup.com/gigascience/article/doi/10.1093/gigascience/giae014/7646332
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    Single-mitochondrion sequencing uncovers distinct mutational patterns and heteroplasmy landscape in mouse astrocytes and neurons
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    ncbi.nlm.nih.gov/pmc/articles/PMC11287894/
  64. Jul 2024
  65. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    The Pgb1 locus controls glycogen aggregation in astrocytes of the aged hippocampus without impacting cognitive function
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    Single-Mitochondrion Sequencing Uncovers Distinct Mutational Patterns and Heteroplasmy Landscape in Mouse Astrocytes and Neurons
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    Drought-induced molecular changes in crown of various barley phytohormone mutants
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  68. May 2024
  69. www.sciencedirect.com www.sciencedirect.com
    Genome sequence analyses identify novel risk loci for multiple system atrophy
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  70. Apr 2024
  71. academic.oup.com academic.oup.com
    Korea4K: whole genome sequences of 4,157 Koreans with 107 phenotypes derived from extensive health check-ups
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    Sensitive MRD detection from lymphatic fluid after surgery in HPV-associated oropharyngeal cancer
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  73. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A Novel CARMIL2 Immunodeficiency Identified in a Subset of Cavalier King Charles Spaniels with Pneumocystis and Bordetella Pneumonia
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  74. Feb 2024
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    Sequence Analysis of Six Candidate Genes in Miniature Schnauzers with Primary Hypertriglyceridemia
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  77. Nov 2023
  78. dx.doi.org dx.doi.org
    Population-specific Mutation Patterns in Breast Tumors from African American, European American, and Kenyan Patients
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  79. Oct 2023
  80. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Neoantigen targetability in progressive advanced melanoma
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    Colorectal Cancer Organoid–Stroma Biobank Allows Subtype-Specific Assessment of Individualized Therapy Responses
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  83. Sep 2023
  84. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Identifying mechanisms of resistance by circulating tumour DNA in EVOLVE, a Phase II Trial of Cediranib Plus Olaparib for Ovarian Cancer at time of PARP Inhibitor Progression
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  85. Aug 2023
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    MHC Class II is Induced by IFNγ and Follows Three Distinct Patterns of Expression in Colorectal Cancer Organoids
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  88. Jul 2023
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  90. Apr 2023
  91. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Toxicity and therapy outcome associations in LIG3, SLCO1B3, ABCB1, OPRM1, and GSTP1 in high-grade serous ovarian cancer
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  92. Mar 2023
  93. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Predicting Cancer Risk from Germline Whole-exome Sequencing Data Using a Novel Context-based Variant Aggregation Approach
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  94. Aug 2022
  95. www.sciencedirect.com www.sciencedirect.com
    Protocol to identify host-viral protein interactions between coagulation-related proteins and their genetic variants with SARS-CoV-2 proteins
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  96. Jun 2022
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    Investigating the characteristics of genes and variants associated with self-reported hearing difficulty in older adults in the UK Biobank
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    Quantification of neoantigen-mediated immunoediting in cancer evolution
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  99. europepmc.org europepmc.org
    A Role for Gene-Environment Interactions in Autism Spectrum Disorder Is Supported by Variants in Genes Regulating the Effects of Exposure to Xenobiotics
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    A Role for Gene-Environment Interactions in Autism Spectrum Disorder Is Supported by Variants in Genes Regulating the Effects of Exposure to Xenobiotics
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  101. Sep 2021
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    Integrated protocol for exitron and exitron-derived neoantigen identification using human RNA-seq data with ScanExitron and ScanNeo
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  103. Aug 2021
  104. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Gigwa v2—Extended and improved genotype investigator
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  106. Apr 2021
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    Integrated Omics of Metastatic Colorectal Cancer
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    A pan-cancer transcriptome analysis of exitron splicing identifies novel cancer driver genes and neoepitopes
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  109. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A common 1.6 mb Y-chromosomal inversion predisposes to subsequent deletions and severe spermatogenic failure in humans
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    ncbi.nlm.nih.gov/pmc/articles/PMC8009663/
  110. Mar 2021
  111. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    New Insights Into Mitochondrial DNA Reconstruction and Variant Detection in Ancient Samples
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  112. Feb 2021
  113. www.cell.com www.cell.com
    Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus
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    cell.com/med/fulltext/S2666-6340(20)30009-X
  114. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Population-scale proteome variation in human induced pluripotent stem cells
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  115. Oct 2020
  116. www.cell.com www.cell.com
    Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus
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  117. Sep 2020
  118. www.sciencedirect.com www.sciencedirect.com
    C/EBPα and GATA-2 Mutations Induce Bilineage Acute Erythroid Leukemia through Transformation of a Neomorphic Neutrophil-Erythroid Progenitor
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  119. www.frontiersin.org www.frontiersin.org
    A Preliminary Study to Investigate the Genetic Background of Longevity Based on Whole-Genome Sequence Data of Two Methuselah Dogs
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  120. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Population-scale proteome variation in human induced pluripotent stem cells
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  121. Jan 2020
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    Gene-centric functional dissection of human genetic variation uncovers regulators of hematopoiesis
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  123. www.sciencedirect.com www.sciencedirect.com
    Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks
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  124. academic.oup.com academic.oup.com
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    academic.oup.com/gigascience/article/8/5/giz051/5488103
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    Differential effects on neurodevelopment of FTO variants in obesity and bipolar disorder suggested by in silico prediction of functional impact: An analysis in Mexican population
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    onlinelibrary.wiley.com/doi/full/10.1002/brb3.1249
  126. Nov 2018
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    Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly
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    The Immune Landscape of Cancer
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    cell.com/immunity/references/S1074-7613(18)30121-3
  129. Nov 2017
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    Genome-wide identification of lineage and locus specific variation associated with pneumococcal carriage duration
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    elifesciences.org/articles/26255
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    f1000research.com/articles/5-2791/v1
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    Mutation of the Human Circadian Clock Gene CRY1 in Familial Delayed Sleep Phase Disorder
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