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Health and population effects of rare gene knockouts in adult humans with related parents
A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans
Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel
The UK10K project identifies rare variants in health and disease
Insights into hominid evolution from the gorilla genome sequence
Reference-based phasing using the Haplotype Reference Consortium panel
Birth, expansion, and death of VCY-containing palindromes on the human Y chromosome
A global reference for human genetic variation