Optimum designs for next-generation sequencing to discover rare variants for common complex disease

• Published in: Genetic epidemiology Vol. 35; no. 6; pp. 572 - 579
• Main Authors: Shi, Gang, Rao, D.C.
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.09.2011
• Subjects: complex diseases; Computer Simulation; enrichment; Family Health; Female; Genetic Linkage; Genetic Variation; Genetics; Genome-Wide Association Study; Humans; linkage; Male; Mathematical models; Microsatellite Repeats; Molecular Epidemiology - methods; next-generation sequencing; Phenotype; Polymorphism, Single Nucleotide; rare variants; Research Design; Sampling; Sequence Analysis, DNA; Siblings; study design

Recent advances in next‐generation sequencing technologies make it affordable to search for rare and functional variants for common complex diseases systematically. We investigated strategies for enriching rare variants in the samples selected for sequencing so as to optimize the power for their dis...