PatientID: II.2

KindredID: F5

Case: M, 13Y0M, Ethnicity Unknown

DiseaseAssertion: Polycythemia

FamilyInfo: N/A

CasePresentingHPOs: HP:0001901 (Polycythemia)

CaseHPOFreeText: Diagnosed with erythrocytosis (Polycythemia) at age 13 (DOB: 1975).

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.G144R (c.430G>A)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 576437, https://www.ncbi.nlm.nih.gov/clinvar/variation/576437/

CAID: N/A

gnomAD: 0.000003976, https://gnomad.broadinstitute.org/variant/3-10188287-G-A?dataset=gnomad_r2_1

VariantEvidence: Variants are heterozygous.

MutationType: missense_variant;transition

CivicName: G144R (c.430G>A) and c.340+694_340+711dup

MultipleGeneVariants: Germline, VHL, c.340+694_340+711dup

PatientID: None (Child 1)

KindredID: 1

Case: Sex Unknown, Age Unknown, Ethnicity Unknown

DiseaseAssertion: Asymptomatic

FamilyInfo: Awaiting testing of the proband’s eight siblings to determine whether or not this is a de novo mutation causing VHL disease. Two of three of the proband’s children have inherited the mutation, they have had no disease manifestations.

CasePresentingHPOs: N/A

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.G144R (c.430G>A)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 576437, https://www.ncbi.nlm.nih.gov/clinvar/variation/576437/

CAID: N/A

gnomAD: 0.000003976, https://gnomad.broadinstitute.org/variant/3-10188287-G-A?dataset=gnomad_r2_1

VariantEvidence: N/A

MutationType: missense_variant;transition

CivicName: G144R (c.430G>A)

MultipleGeneVariants: N/A

PatientID: None (Child 2)

KindredID: 1

Case: Sex Unknown, Age Unknown, Ethnicity Unknown

DiseaseAssertion: Asymptomatic

FamilyInfo: Awaiting testing of the proband’s eight siblings to determine whether or not this is a de novo mutation causing VHL disease. Two of three of the proband’s children have inherited the mutation, they have had no disease manifestations.

CasePresentingHPOs: N/A

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.G144R (c.430G>A)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 576437, https://www.ncbi.nlm.nih.gov/clinvar/variation/576437/

CAID: N/A

gnomAD: 0.000003976, https://gnomad.broadinstitute.org/variant/3-10188287-G-A?dataset=gnomad_r2_1

VariantEvidence: N/A

MutationType: missense_variant;transition

CivicName: G144R (c.430G>A)

MultipleGeneVariants: N/A

PatientID: N/A

KindredID: 442

Case: Age unknown, Sex unknown, Ethnicity unknown

DiseaseAssertion: assumed VHL

FamilyInfo: Paper states: Germline, de novo (no clear confirmation)

CasePresentingHPOs: HP:0005584; HP:0010797 (renal cell carcinoma, hemangioblastoma)

CaseHPOFreeText: Bilateral RCC and a hemangioblastoma

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: Yes (Specifically Supp. Table S2)

Variant: p.G144* (c.430G>T)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 223208 https://www.ncbi.nlm.nih.gov/clinvar/variation/223208/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: stop_gained

CivicName: G144* (c.430G>T)

MultipleGeneVariants: N/A

I feel that this is a recurring problem experienced by all researchers whether that be historical research or lab-based research. There's always a chance that something could be messed up so having someone there to double check or ensure you don't mess it up during the first time would probably give a lot of relief.

This is very important as it can also reduce potential biases that may arise when analyzing these sources. If digital discomfort were not embraced, it could probably affect everything from the tags to the interpretation of the postcards themselves.

It's interesting cause I probably wouldn't make this comparison but could definitely see how posts can be compared to postcards in The Suffrage Postcard Project. If posts were to be compiled similarly in the future, it would probably be very overwhelming or virtually impossible to categorize in a way like SPP does.

It's interesting how the term "digital discomfort" can take on multiple meanings from whether it's discomfort using tools or discomfort experienced when interacting with sources online. It's possible that this is something that will continue to be unavoidable despite extended dependency on the internet.

Through a digital medium, history can both be looked at and made simultaneously. These are feats that I don't believe could be achieved in real time via an analog method.

It's amazing to see how technology and the internet have allowed for a wider reach in terms of education and gaining multiple perspectives from scholars/historians who may not have had access to a similar database if they were restricted to analog methods.

I agree. The initial perception that it might make learning and reading these accounts easier may be because it can feel that these lives are reduced to numbers to a certain extent. In reality, it has and will continue to be a difficult topic to broach when provided context beyond the numbers and in general.

At this point of the reading I definitely notice the shift in describing those who visit websites but I don't believe the terms used are mutually exclusive. There may be a wider range of the type of readers such as those who skim through it or use it for analysis so I feel that there is overlap.

It's interesting to see how a work/primary source can be transformed to achieve desired ends as well as give context to a source through a secondary source that could later be used for statistical purposes. While I could see how this experience of Neptune and Suriname could be used in conjunction with historical analysis methods, I could also see how it may reduce these individuals to numbers.

In addition to not understanding English, this is further exacerbated by the lack of accessibility to the internet which is a source of learning English for many.

What are some ways that this can be alleviated? Should digitization projects have translations or should learning English be required in some way/form?

In this way I feel that historians can be more efficient in compiling and integrating primary and secondary sources. Of course there will also be disadvantages to everything but this should mean that the training historians undergo must be more rigorous in the analysis of these sources and fact check one another when possible.

I think this is obtainable more now than ever before. It's important to recognize the significance of both and how each shapes our current understanding of history. With biases that have existed in the past however, I can see how it can be difficult to overcome or completely eliminate in the present.

As someone who has grown up with technology and primary sources that are not limited to the region I'm in I don't think this sentiment was as overarching as it had been in the past. While I have been limited at times due to the country I'm in, I have not felt it was done to reinforce a nation-state bias.

The distinction Putnam makes is very clear. I wonder how historians trained at different periods of time view this digitized turn and what the consensus is. From an outside perspective it seems like engaging with primary sources through technology would complement and benefit the wider understanding of history as a whole. I could see how those from an "analog age" can be disgruntled by it but the advantages afforded by technology is one that cannot be ignored.

I agree that while it may feel like a smooth transition, the impact it has had on the compilation and integration of history as a whole has changed drastically. Similar to a non-linear path of consuming information, we seem to take these advantages for granted.

I can understand this sentiment and would also question if this ease in finding information is equivalent to the fieldwork that had to be performed to find such sources in the past. With this passage, I can agree that there may be less incentive to dive deep into a certain source when it feels there's also many others that need to be looked at.

This seems to be something that has had a very large impact on the direction of history and how fast it can be disseminated to the larger public. It is something that can fall privy to the pitfalls of digital history but I think it can benefit historians more than hurt them, especially since they are more likely to determine if a document is a legitimate source.

The added visualization provided by digital history allows readers to consume the material better. Especially with the speed in which these graphics can be made, learners of all types have equal access to information from this standpoint.

I feel that this phenomena is often taken for granted. An example I can recall is reading a wikipedia page where you click the blue text that opens a new page. With digital narratives, further information can be provided to the reader if they choose without having to go on a tangent that might take away from the main article.

This kinda reminds me of the Oregon Trail where game-like, interactive methods for sharing information with students allows for a better understanding of the topic at hand. It seems like it has trended towards that as access to technology increased and became more normal to see in academic settings.

While creating physical spaces for archival material is a collaborative effort, digital collections provide a space where much more people can be involved. It is also possible that with this wider reach that more obscure individuals such as those mentioned in the meeting minutes can be identified and humanized beyond their contributions.

The 1960s seemed so long ago, especially with computers and statistical methods derived from a better understanding of technology. I would have though that the growth of digital history would have been more recent. It's also possible that the internet and digital history as a whole looked a whole lot different than what we might consider or perceive it as now.

It's interesting to see how inclusive digital history is such as in the making and compiling of history in a digital format. As history is always in the making, the wide accessibility to technology we see in the present allows for individuals of all different backgrounds to add their insight and experience for those in both the present and future to look back on.

Definitely during the pandemic, the digital divide was amplified, especially for developing countries who don't have reliable access to the internet and puts strain on parents and students to teach the material themselves. Even with this class and other classes I have, students worrying about unreliable internet or an old laptop remains a common occurrence.

It's both interesting and shocking to see how much more amplified these systems are in the digital world. With many opinions and users flooding a given digital space, it may be difficult to find consensus on what is appropriate and whether or not to care at all.

It seems that as technology improves, the overlap between different fields within humanities and STEM becomes more apparent. It's interesting to see that statistical models and programs would be needed in order to analyze a large database of information in a more efficient manner.

For anyone performing academic research via online sources, I feel like it could be overwhelming to approach such a large database of information at once. While it's much easier to access, the depth may seem impossible to integrate into a secondary source.

With increasing amounts of applications to well-known universities each year and with little time to decide on whether to accept them. I wonder if such detailed reports would be overlooked compared to a simple sheet with standardized grades.

I definitely agree with this as there were classes in the past that I initially took because I was passionate about the topics they were covering but grew to focus more on getting a good grade. I imagine it must be worst for students who are not at all interested which may already set them up to fail before they even start the class.

I tend to separate interest and learning since I can still try to learn something I'm not interested in. While I'm not surprised that it diminishes interest and that it negatively impacts grades, I find it difficult to envision some sort of standardized way in which material can be taught in an interesting way that still gives all students a well-rounded education.

While I wish that were the case, I have always lived with this structure of assignments and assessments for a grade and find it difficult to alter this mindset about learning. I think I have this mindset because of how fast the quarter goes and how much information we need to learn within this short amount of time. If given a lot of time for learning, I feel that this type of approach might work better. While it might work for some classes in a given student's schedule, it might not be good for all of them to be structured this way.

I'm not sure when the last time I did an assignment for a grade however for as long as I can remember it seemed like I was always writing for a grade just so I can check all the boxes or get all the points of the rubric. While it's helpful in terms of figuring out how to get the best grade, it's not great if you have a passion for learning.

First Witch at 144..155

First Witch at 144..155