A global reference for human genetic variation.
Citations
128 citations
128 citations
Cites methods or result from "A global reference for human geneti..."
...On comparing results using an older version of the ClinVar database (2014 version), we find clear evidence of ascertainment bias in the older database, with a greater number of clinically significant disease alleles/individual among Europeans compared with Africans, as have been reported before (Table S4.2; Auton et al., 2015)....
[...]
...In order tominimize ascertainment bias, we used Ugandan sequence data on 2,100 individuals called and refined across the Ugandan and 1000Genomes Project phase 3 (Auton et al., 2015) and AGVP panel (Gurdasani et al....
[...]
...We removed low complexity regions of sequence as defined by the 1000 Genomes Project, as described previously (Auton et al., 2015)....
[...]
127 citations
127 citations
127 citations
References
88,255 citations
45,957 citations
18,858 citations
13,548 citations
10,164 citations