Research Article

Whole-Genome Sequencing Identifies the Egl Nine Homologue 3 (egln3/phd3) and Protein Phosphatase 1 Regulatory Inhibitor Subunit 2 (PPP1R2P1) Associated with High-Altitude Polycythemia in Tibetans at High Altitude

Table 2

Summary of whole-genome sequencing and variant call statistics per individual.

CategorySamplePaired-end reads (million)Mapped rateMean depthCoverage of genomeFinal SNVsSNVs (%)Nonsilent SNVs

HAPCD1WGC025333421.099.6%42.599.7%2,672,70894.26,600
D2WGC025334417.699.5%41.899.8%3,506,62794.19,610
D3WGC025335404.499.7%41.199.8%3,536,61393.59,926
D4WGC025336408.899.5%41.399.7%3,532,40193.79,918
D5WGC025337410.399.6%41.699.8%3,511,58994.29,605
D6WGC025338402.399.5%40.799.7%3,507,51794.19,595
D8WGC025340366.240.7%14.499.5%3,362,35093.29,593
D10WGC025341412.097.4%40.799.8%3,529,92793.69,760
D13WGC025344392.899.5%39.399.8%3,538,73193.59,860
D15WGC025346401.399.4%40.399.7%3,510,73993.89,687

ControlZ1WGC025347429.599.5%43.599.1%3,546,34993.59,750
Z2WGC025348365.399.8%3799.7%3,529,02993.49,835
Z3WGC025349305.299.6%30.999.0%3,561,60793.39,940
Z4WGC025350429.099.6%43.499.7%3,511,38893.79,629
Z5WGC025351422.899.6%42.699.7%3,513,15193.89,467
Z6WGC025352363.999.8%3799.1%3,544,57493.69,735
Z7WGC025353412.899.5%41.899.8%3,535,83993.69,857
Z8WGC025354420.899.4%42.799.7%3,544,49293.69,705
Z13WGC025359413.599.5%41.999.8%3,534,52593.59,841
Z14WGC025360412.199.5%41.999.1%3,561,39993.49,821