Ryan L. Collins, A.B.
NSF Graduate Research Fellow & Ph.D. Candidate
Program in Bioinformatics and Integrative Genomics
Harvard Medical School, Boston, MA
Contact
rlcollins [at] g.harvard.edu
Blog posts by month
- March 2019 (1)
- June 2017 (1)
- November 2016 (1)
- July 2016 (1)
- April 2016 (1)
@ryanlcollins13
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Roscioli: Worth remembering that genomics is best for extremes. Severe intellectual disability has a higher diagnostic rate than more mild ID. #genemappers19
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1/ So excited to have our work joint with the Rich lab lead by @morton_andrew published in Cell @CellCellPress today: “Functional enhancers shape extrachromosomal oncogene amplifications”. t.co/24hU8hvP3T #tweetorial below
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@vkpillal @Phil_A_Richmond @Xuefang6 Yeah, seems like that could also play a role, along with relatedness in the cohort. Still, I would be surprised if those effects were quite this large, though.
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@kaptenkvast Great catch—I agree that coverage could definitely be a factor here, especially if it resulted in differential sensitivity across the frequency range. I still need to read the methods in detail so perhaps there are additional technical explanations for this observation