Ryan is a Ph.D. candidate studying translational human genomics in the Bioinformatics and Integrative Genomics program at Harvard Medical School. He is supported by an award from the Graduate Research Fellowship Program (GRFP) through the National Science Foundation (NSF).
- .@hcmefford: When parents have a child with a de novo mutation, they are often counselled that there is a low recurrence risk. But this isn't the case when the mutation happens to be mosaic in the parental germline. #ESHG2019
New @NatureGenet paper casts light on an important yet opaque slice of #autism genetic architecture. Rare gene knockouts (biallelic LoF) contribute to ~5% of ASD cases. Effect is modest, but undeniable. Nice paper w/clear writing. Congrats to all authors! t.co/6J8rDse2sd t.co/IRGtuyl33B
@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
- 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