Dear Team,
I’m currently working on Runs of homozygosity from whole exome sequencing. As part of the analysis, I am comparing monoallelic stop-gain protein-truncating variants (PTVs) in my dataset to ExAC reference populations. I am trying to get access on sample-wise summary statistics from the ExAC dataset particularly,
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The estimate of the average number of stop-gain PTVs per sample (In homozygous, heterozygous, rare homozygous, and rare heterozygous)
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Allele frequencies of these variants to check for rarity
I have attached a figure from a published paper (Analysis of protein-coding genetic variation in 60,706 humans) where similar statistics were presented for ExAC individuals. I am planning to conduct a similar analysis, and access to this data would be extremely valuable. It would be really helpful if I could access the updated version of this data.
Thanks and Regards
swathy
