Human genetic variation and its contribution to complex traits

By Kelly A. Frazer, Sarah S. Murray, Nicholas J. Schork, Eric J. Topol. 2009

1,127 citations recorded by the source corpus.

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In Genetics

Citations in the corpus

Genomics and the future of conservation genetics (2010, background): “Although many candidate genes have been identified, often a large proportion of the heritability remains unexplaine”
Genome-wide association studies in diverse populations (2010, neutral): “jpg"/> Over the past few years, genome-wide association studies (GWA studies) have produced numerous successes in identifying genetic variants that contribute to complex human trait”
Epigenetics as a unifying principle in the aetiology of complex traits and diseases (2010, background): “Only recently was it determined that the difference in DNA sequence among unrelated individuals is very low (”
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”
Fast Identification and Removal of Sequence Contamination from Genomic and Metagenomic Datasets (2011, background): “A major limitation of the alignment approach is the lack of corresponding regions that do not exist in the reference genome(s), referred to as dark matter, which may result from gaps in the reference or the presence of structural variants in the genome(s) being analyzed [45,46].”
The genetics of inbreeding depression (2009, background): “Vast numbers of small-effect mutations probably exist at low frequencies in humans and underlie many common diseases, such as asthma (which explains why the genes that have been mapped in powerful association mapping analyses explain little of the total genetic varianc”
Missing heritability and strategies for finding the underlying causes of complex disease (2010, background): “Although GWA studies have been successful in identifying common variants involved in complex trait aetiology, for the majority of complex traits,”
News from the protein mutability landscape. (2013, background): “[4] Frazer KA, Murray SS, Schork NJ, Topol EJ.”
BLINK: a package for the next level of genome-wide association studies with both individuals and markers in the millions (2018, neutral): “Genome-wide association studies (GWAS) have identified many genetic loci presumed to control some human diseases and agri-culturally important traits [3–5].”
Mutation severity spectrum of rare alleles in the human genome is predictive of disease type (2019, background): “Different types of genetic variations occur at a range of scales from large structural variations such as chromosomal rearrangements and copy number variations (CNVs), to insertions and deletions (indels) of up to hundreds of nucleotide positions, and to single-base-pair (single-nucleotide) variatio”