Last week, we released the initial structural variant (SV) callset for the Genome Aggregation Database (gnomAD), which included nearly a half-million distinct SVs discovered across ~15 thousand human whole-genome sequences.
Recently, I wrote a short peice for a great local science news & media outlet, Science In The News (SITN), to explain how population-scale genetic sequencing is driving major advances in precision medicine.
The article is targeted primarily for the lay public (i.e. non-specialists), so it's mostly jargon-free. It gets even better for those among us who are more visually inclined learners: a fellow PhD student at HMS, Brad Wierbowski, put together some great graphical figures to explain the core concepts (thanks Brad!).
Our collaboration with Sam Schilit, Cynthia Morton, and the rest of the DGAP team on a case of congenital hearing loss with a de novo balanced translocation, dubbed DGAP242, was published this week in European Journal of Human Genetics. The article can be viewed here. Congrats to...
RyanLCollins13@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
RyanLCollins13@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?
RyanLCollins13Whoa😮 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