Abstracts for the 42nd Human Genetics Society of Australasia Annual Scientific Meeting Sydney, New South Wales August 4–7, 2018

2018 Twin Research and Human Genetics  
More than two million humans have now had their exomes or genomes sequenced, but the underlying data are typically heavily siloed by project and generated using inconsistent sequencing and analysis technologies. Harmonizing these data represents a tremendous opportunity to understand the distribution of genetic variants across human genes, and their impact on human phenotypes and disease risk. In this talk I will describe work done as part of the Genome Aggregation Database (gnomAD) project and
more » ... its predecessor, the Exome Aggregation Consortium (ExAC), to harmonize exome and genome sequencing data from over 130,000 individuals. I will describe the construction of this resource, and the ways it can be used to interpret individual genetic variants, to identify genes (and regions of genes) depleted of functional variation, and to characterize human 'knockouts' across a range of populations.
doi:10.1017/thg.2018.51 pmid:30284531 fatcat:2fzkr56iwndxfhcpcuuwtxymkm