Ryan L. Collins, A.B.
NSF Graduate Research Fellow & Ph.D. Candidate
Program in Bioinformatics and Integrative Genomics
Harvard Medical School, Boston, MA
Contact
(603) 290-2200
Blog posts by month
- March 2019 (1)
- June 2017 (1)
- November 2016 (1)
- July 2016 (1)
- April 2016 (1)
@ryanlcollins13
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@bioinfo_mark @jorisveltman @idaista @TalkowskiLab Specifically, fig 4b shows the data behind the 25% estimate, if you're curious! Abbreviations used 👇 are: pLoF = function loss-of-function IED = intragenic exonic duplication (likely frameshit/LoF-acting) CG = whole-gene copy-gain t.co/HlA8pOya3u
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My conclusion after @TalkowskiLab wonderful educational talk: SV very important in disease but detection is still far from perfect. We need to solve this before moving to interpretation...long reads will be the solution but need improvement and wider application.. #ESHG2019
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Paper on BioRXiv! t.co/YKdI8w0cnN t.co/wHijASCxu3
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@bioinfo_mark @jorisveltman @idaista @TalkowskiLab The 25% statistic is based on this preprint: t.co/KmY9AXdV3E
