Authors
Christine W Duarte, Laura K Vaughan, T Mark Beasley, Hemant K Tiwari
Publication date
2013/1/1
Book
Emery and Rimoin's Principles and Practice of Medical Genetics
Pages
1-15
Publisher
Academic Press
Description
Multifactorial diseases are caused by multiple genetic and environmental factors. The study of multifactorial disease involves several steps, including determination of disease heritability, segregation analysis to determine the genetic model, linkage or association mapping to identify genetic loci underlying the disease, fine mapping to determine the causal variants, and replication and functional analysis to confirm the initial findings. The HapMap and 1000 Genomes project, which surveyed genetic variation in a diverse set of human populations, led to advances in affordable high-throughput genotyping technology that enabled myriad genome-wide association studies for many common diseases. Direct sequencing, which allows for unbiased assessment of all sources of genetic variation, has been used more recently. Important statistical considerations include adjusting for population admixture to prevent false …
Total citations
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Scholar articles
CW Duarte, LK Vaughan, TM Beasley, HK Tiwari - Emery and Rimoin's Principles and Practice of Medical …, 2013