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Plot of the minor allele frequency (MAF) and the effect size (based on
PDF) Genetic architecture of cancer and other complex diseases
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A variant-centric perspective on geographic patterns of human allele frequency variation
Genes, Free Full-Text
Jonathan Pritchard Lab Research
Primary research strategies for identification of genet
Underestimated Effect Sizes in GWAS: Fundamental Limitations of Single SNP Analysis for Dichotomous Phenotypes
Revisiting the Missing Heritability of Complex Diseases, Ten Years On
PDF) Genetic architecture of cancer and other complex diseases
Frontiers Genes and Pathways Implicated in Tetralogy of Fallot Revealed by Ultra-Rare Variant Burden Analysis in 231 Genome Sequences
Characterizing rare and low-frequency height-associated variants in the Japanese population
Rare variants contribute disproportionately to quantitative trait variation in yeast
Extensive impact of low-frequency variants on the phenotypic landscape at population-scale
Identifying interpretable gene-biomarker associations with functionally informed kernel-based tests in 190,000 exomes