EFTA01140242Dataset 9
2013-08-2714p12,142w
…to be damaging to protein damaging mutations and known pathogenic variations in genes function by two of three predictions algorithms [Polyphen 2.0 previously reported to be associated with human disorders. We (18), Sift (19-24), and MutationTaster (25)] using Database of identified 271 recessive risk alleles (214 genes), 126 dominant risk Human Non-synonymous SNVs and their functional predictions alleles (101 genes), and 3 X-recessive risk alleles (3 genes). We and annotations (dbNSFP) (26) as described in Fig…
https://www.justice.gov/epstein/files/DataSet%209/EFTA01140242.pdf