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Add population and frequency data? #7

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thefferon opened this issue Apr 9, 2018 · 1 comment
Open

Add population and frequency data? #7

thefferon opened this issue Apr 9, 2018 · 1 comment

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@thefferon
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If you have information on the population of origin for any of these variants, it could be really useful to include it in the data files.

Also, allele frequency data must be available for at least some of these variants. Do you plan to include allele frequencies in these files, to help with variant interpretation?

@andrewSharo
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I strongly agree! Because structural variants can be associated with recessive disorders, having allele frequency for these SVs is critical, just as it is for SNPs. Is there a timeline for adding this information?

As a side note, if others are looking for a similar resource, Database of Genomic Variants includes variant counts and sample counts that allow you to approximate allele frequency for each SV. Their data unfortunately has not been updated since 2016.

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