Genetic Mapping in Human Disease

By David Altshuler, Mark J. Daly, Eric S. Lander. Science, 2008

1,496 citations recorded by the source corpus.

Genetic mapping provides a powerful approach to identify genes and biological processes underlying any trait influenced by inheritance, including human diseases. We discuss the intellectual foundations of genetic mapping of Mendelian and complex traits in humans, examine lessons emerging from linkage analysis of Mendelian diseases and genome-wide association studies of common diseases, and discuss questions and challenges that lie ahead.

Subfields: Genetics, Molecular Biology

View Paper: https://www.semanticscholar.org/paper/85282c18a9ea0cccaeeff9c767422a5fd655a1cb

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Citations in the corpus

The genetics of quantitative traits: challenges and prospects (2009, background): “launched an avalanche of studies mapping QTLs, which has culminated in recent large-scale genome-wide maps of QTLs that affect human quantitative traits and disease”
Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease (2011, background): “A complete catalog of all variation is required in the search for causal variant”
A high-resolution map of human evolutionary constraint using 29 mammals (2011, neutral): “Detecting and interpreting these elements is particularly relevant to medicine, as loci identified in genome-wide association studies (GWAS) frequently lie in non-coding sequence 5 .”
Molecular networks as sensors and drivers of common human diseases (2009, background): “Genome-wide association studies (GWAS) are now well proven to uncover genetic loci that affect disease risk or progressio”
Genetic diagnosis by whole exome capture and massively parallel DNA sequencing (2009, background): “For complex traits, genome-wide association studies have identified more than 250 common variants associated with risk alleles that contribute to a wide range of diseases (2, 3).”
Natural variations and genome-wide association studies in crop plants. (2014, methodology): “GWAS approaches have been widely used in genetic research to identify the genes involved in human disease (2, 118).”
Gene-Environment-Wide Association Studies: Emerging Approaches (2010, neutral): “For the main effects of genes, various design and analysis issues have been widely discusse”
Virus-Plus-Susceptibility Gene Interaction Determines Crohn’s Disease Gene Atg16L1 Phenotypes in Intestine (2010, background): “Common genetic polymorphisms predispose to complex diseases such as type I diabetes, multiple sclerosis, Crohn’s disease, and ulcerative colitis (The Wellcome Trust Case Control Consortium, 2007; Altshuler et al., 2008).”