Natural selection on genes that underlie human disease susceptibility.
By R. Blekhman, Orna Man, Leslie Herrmann, A. Boyko, Amit R. Indap, Carolin Kosiol, Carlos D. Bustamante, Kosuke M. Teshima, M. Przeworski. 2008
241 citations recorded by the source corpus.
Subfields: Genetics, Molecular Biology
How researchers see this paper
The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.
In Genetics
- Paul A Hohenlohe
- Erik P. Garrison
- Chris Tyler-Smith
- Anne H. O'Donnell-Luria
- Towfique Raj
- Javier Herrero
- Haiyuan Yu
- Richard A. Gibbs
In Molecular Biology
- Erik P. Garrison
- Gabor T. Marth
- Haiyuan Yu
- Fiona Cunningham
- Jishnu Das
- Paul A Hohenlohe
- Mark Gerstein
- Chris Tyler-Smith
Citations in the corpus
- Integrative Annotation of Variants from 1092 Humans: Application to Cancer Genomics (2013, background): “(51), and curated from the Online Mendelian Inheritance in Man (OMIM) database.”
- Evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines (2017, background): “Recessive: this dataset contains variants in genes that were associated with recessive mode of inheritance as determined by both [37] and [38].”
- Population Genomics of Parallel Adaptation in Threespine Stickleback using Sequenced RAD Tags (2010, background): “under strong diversifying or stabilizing natural selection [9,30–41].”
- Transcript expression-aware annotation improves rare variant discovery and interpretation (2019, methodology): “For variants identified in autosomal recessive disease genes, we used a list of 1,183 OMIM disease genes deemed to follow a recessive inheritance pattern by Blekhman et al.( 45 ) and Berg et al.( 46 ) (available as https://github.com/macarthur-lab/gene_lists/blob/master/lists/all_ar.tsv ).”
- Measuring biological aging in humans: A quest (2019, background): “During this “middle” period, most individuals in the population are free of diseases (Blekhman et al., 2008; Olshansky, 2016).”
- Progress and Promise of Genome-Wide Association Studies for Human Complex Trait Genetics (2011, background): “Genes underlying Mendelian disorders show strong evidence for purifying selection (Blekhman et al. 2008).”
- Characterising and Predicting Haploinsufficiency in the Human Genome (2010, unknown): “database [10,15], respectively, with no information regarding”