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).
- @gwern @cwarden45 @WDavidHill Very cool, thanks for sharing! I hadn’t seen that paper before.
- @cwarden45 I know there has been extensive theoretical modeling on the topic, but would be curious to read other studies that have empirically tested h2 contributed by rare variants, either in height or other phenos
- @cwarden45 No prob! I don't follow the missing heritability debate closely (not an expert!), but AFAIK rare variants were already known to act on height (e.g. t.co/SKnzDLKJA7), but this may the first empirical demonstration that rare vars explain most of missing h2? True?
- Whoa😮 seems like a pretty major finding: "...variants in the MAF range of 0.0001 to 0.1 explained 0.54 and 0.51 of heritability for height and BMI, respectively... imply[ing] that the still missing heritability of complex traits and disease is accounted for by rare variants" t.co/8I4qJYexyM