discovery of rare variants via sequencing implications for the design of complex trait association studies通过测序发现的罕见变异影响复杂特征关联研究的设计.pdfVIP

Discovery of Rare Variants via Sequencing: Implications for the Design of Complex Trait Association Studies Bingshan Li, Suzanne M. Leal* Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America Abstract There is strong evidence that rare variants are involved in complex disease etiology. The first step in implicating rare variants in disease etiology is their identification through sequencing in both randomly ascertained samples (e.g., the 1,000 Genomes Project) and samples