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).
- /my first Twitter explainer Was awesome to work on this over last ~3 years. Great group of collaborators! Looking forward to much more WGS soon. ~Fin~ 15/15
- In summary: WGS is an exciting/tantalizing data type that is on track to revolutionize aspects of human genetics. That said... please, please treat significant noncoding associations from small studies with skepticism until multiply replicated in larger cohorts. 14/15
Further, we find a couple hundred de novo & mosaic SV in children one would want to consider in WGS studies. Molecular confirmation rate > 97%
Some are even likely relevant to autism, like a de novo balanced translocation of GRIN2B or a de novo 4-exon CHD2 deletion.
The _vast_ majority of SV are small & rare. Analyses restricted to large or common SV get the tip of a much bigger iceberg (but still better than nothing!)