Uncovering the roles of rare variants in common disease through whole-genome sequencing

By Elizabeth T. Cirulli, David B. Goldstein. 2010

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In Genetics

Citations in the corpus

Coevolutionary Landscape Inference and the Context-Dependence of Mutations in Beta-Lactamase TEM-1 (2015, background): “…of mutational pathways accessible in the course of evolution [2–4], it can lead to the identification of genetic determinants of complex diseases based on rare variants [5], and it can guide towards the understanding of the functional contribution of molecular alterations to oncogenesis [6].”
Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program (2019, background): “RNA splicing and processing proteins (Supplementary Table 7).”
A new approach for efficient genotype imputation using information from relatives (2014, background): “Accurate imputation of SNP with rare alleles (MAF ≤ 0.05) is important since rare alleles may account for a large portion of the genetic variation that is not explained by common alleles [20].”
Rare and Common Variants: Twenty arguments (2011, background): “, a large number of large-effect rare variants (the rare allele model”
Practitioner Review: What have we learnt about the causes of ADHD? (2013, background): “…much larger ADHD sample sizes through international collaborations and by performing exome (genetic coding regions) and whole genome sequencing to capture all DNA sequence variation and structural variants (e.g. chromosomal deletions, duplications; Cirulli & Goldstein, 2010; Lander, 2011).”
Capturing the mutational landscape of the beta-lactamase TEM-1 (2013, background): “More importantly, it may pave the way to some accurate prediction of the effect of individual mutations on gene activity, a task of increasing importance in the identification of the genetic determinants of complex diseases based on rare variants (8, 9).”
Meta-analysis of twin studies highlights the importance of genetic variation in primary school educational achievement (2015, background): “One of the explanations for this difference in heritability might be that some variation in educational achievement is due to other variants that are not among the SNPs on the available DNA arrays [64].”
Alzheimer’s Disease: The Challenge of the Second Century (2011, background): “During the last few years, several technological advances have transformed the landscape regarding the genetics of common complex traits such as AD (139, 140).”
Haplotype phasing: Existing methods and new developments (2011, background): “As the pendulum moves back from the common-disease, common-variant hypothesis — which has a focus on association studies in unrelated individuals — to a greater focus on rare variants that are most easily studied in family dat”
Rare-variant association analysis: study designs and statistical tests. (2014, background): “Over the past several years, rapid advances in DNA sequencing technologies 17 have transformed human and medical genetics.”
Exome sequencing as a tool for Mendelian disease gene discovery (2011, positive): “%) associated with common traits typically requires resequencing instead of genotyping 83 and has therefore been challenging.”