Database of Autozygous Segments (DAS)...

So you've read our 2012 and 2017 papers investigating genomic patterns in regions of autozygosity (ROA) in the Human Genome Diversity Panel (HGDP), International Haplotype Map (HapMap), and 1000 Genomes Project sample sets, are excited by the results, and now you want to explore some of your own questions in our ROA datasets. On this page you can explore genome-wide ROA patterns to find what you are interested in! Depending on how you arrived here, you may be presented with either the 2012 or 2017 dataset in the Genome Browser below. Think you've been given the wrong one? Click on the link at the bottom of this box that refers to the dataset you are interested in, and the page will magically reload with it presented!

Can't find what you are after? E-mail Trevor Pemberton and he'll do his best to point you in the right direction or add what you're looking for to the database behind the JBrowser interface.

ROA track data for the HGDP and HapMap populations was taken from Pemberton et al. (2012) Am J Hum Genet 91(2):pp.275-292 while ROA track data for The 1000 Genomes Project populations was taken from Blant et al. (2017) BioRxiv. Non-ROA track data was obtained from the UCSC Genome Browser with the following exceptions: miRNA were obtained from miRBase, clinically-associated SNPs were obtained from the NCBI ClinVar database, and OMIM dominant & recessive genes were obtained from the McArthur Lab at Massachusetts General Hospital (presented tracks represent the restriction of the UCSC refGene list to these subsets).