Discover and read the best of Twitter Threads about #brca2

Most recents (3)

watching #TheGenePBS Part2
going from #single_gene_disorders to multi-factorial, multigene disorders #TheGenePBS
Read 19 tweets
Here's my latest* update to my vetted collection of Twitter Disability and Chronic Illness hashtags. Please share it!

Thank you :-) Graffiti background. Foreground in black letters on a  white background to the left reads “Twitter Disability and Chronic Illness Hashtags”<br />
This collection is current as of 01.30.20, previous Twitter update 09.11.19.

There's a PDF version coming up this weekend, to be posted to my Kofi profile. I'll add the link toward the end when it goes up, after the questions, where you can also sign up for email updates.
This version has added

- community suggestions,
- mental health hashtags,
- Medical crowdfunding hashtags,
- and a section for cancer-related hashtags.
Read 84 tweets
@my_helix @uk_biobank @my_helix took a look at 1,317 @uk_biobank phenotypes w/ 50,000 exomes released last week. Going beyond #GWAS, used gene-based collapsing analysis. Thanks @bmneale Pheasant pipeline for clean phenotypes, @hailgenetics for the tooling.
@my_helix @uk_biobank @bmneale @hailgenetics Found some stuff that we expected, #LDLR for #cholesterol, #MC1R for red hair; but counts too small for other known conditions like HBOC/#BRCA2 @ATorkmani @RobertCGreen @atulbutte @gabecasis
@my_helix @uk_biobank @bmneale @hailgenetics @atorkmani @RobertCGreen @atulbutte @gabecasis Some interesting findings: #GP1BB associated with mean platelet volume. #GP1BB variants have been implicated in bleeding and platelet disorders.
Read 8 tweets

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