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Testing for association with rare variants in the coding and non-coding genome: RAVA-FIRST, a new approach based on CADD deleteriousness score

Archive ouverte | Bocher, Ozvan | CCSD

International audience. Rare variant association tests (RVAT) have been developed to study the contribution of rare variants widely accessible through high-throughput sequencing technologies. RVAT require to aggrega...

Protein S Heerlen mutation heterozygosity is associated with venous thrombosis risk

Archive ouverte | Suchon, P. | CCSD

International audience. Hereditary Protein S (PS) deficiency is a rare coagulation disorder associated with an increased risk of venous thrombosis (VT). The PS Heerlen (PSH) mutation is a rare S501P mutation that wa...

SURFBAT: a surrogate family based association test building on large imputation reference panels

Archive ouverte | Herzig, Anthony | CCSD

International audience. Abstract Genotype–phenotype association tests are typically adjusted for population stratification using principal components that are estimated genome-wide. This lacks resolution when analyz...

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