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Selection and explosive growth may hamper the performance of rare variant association tests

https://doi.org/10.1101/015917
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What this work says

Outgoing claims: the papers this work cites, builds on, or argues with.

inferredcites →https://doi.org/10.1002/gepi.20450openalex-snapshot
An evaluation of statistical approaches to rare variant analysis in genetic association studies
inferredcites →https://doi.org/10.1002/gepi.21866openalex-snapshot
Population Genetic Simulations of Complex Phenotypes with Implications for Rare Variant Association Tests
inferredcites →https://doi.org/10.1016/j.ajhg.2008.06.024openalex-snapshot
Methods for Detecting Associations with Rare Variants for Common Diseases: Application to Analysis of Sequence Data
inferredcites →https://doi.org/10.1016/j.ajhg.2010.04.005openalex-snapshot
Pooled Association Tests for Rare Variants in Exon-Resequencing Studies
inferredcites →https://doi.org/10.1016/j.ajhg.2011.05.029openalex-snapshot
Rare-Variant Association Testing for Sequencing Data with the Sequence Kernel Association Test
inferredcites →https://doi.org/10.1016/j.ajhg.2012.01.008openalex-snapshot
Resequencing Candidate Genes Implicates Rare Variants in Asthma Susceptibility
inferredcites →https://doi.org/10.1016/j.ajhg.2012.06.007openalex-snapshot
Optimal Unified Approach for Rare-Variant Association Testing with Application to Small-Sample Case-Control Whole-Exome Sequencing Studies
inferredcites →https://doi.org/10.1016/j.gde.2009.04.010openalex-snapshot
Common vs. rare allele hypotheses for complex diseases
inferredcites →https://doi.org/10.1016/j.jaci.2009.09.013openalex-snapshot
Sequencing the IL4 locus in African Americans implicates rare noncoding variants in asthma susceptibility
inferredcites →https://doi.org/10.1016/j.mrfmmm.2006.09.003openalex-snapshot
A strategy to discover genes that carry multi-allelic or mono-allelic risk for common diseases: A cohort allelic sums test (CAST)
inferredcites →https://doi.org/10.1016/s0168-9525(01)02410-6openalex-snapshot
On the allelic spectrum of human disease
inferredcites →https://doi.org/10.1038/ng.2896openalex-snapshot
The deleterious mutation load is insensitive to recent population history
inferredcites →https://doi.org/10.1038/ng.3039openalex-snapshot
Most genetic risk for autism resides with common variation
inferredcites →https://doi.org/10.1038/ng.3186openalex-snapshot
No evidence that selection has been less effective at removing deleterious mutations in Europeans than in Africans
inferredcites →https://doi.org/10.1038/ng.608openalex-snapshot
Common SNPs explain a large proportion of the heritability for human height
inferredcites →https://doi.org/10.1038/nrg2760openalex-snapshot
Genome-wide association studies in diverse populations
inferredcites →https://doi.org/10.1073/pnas.0906182107openalex-snapshot
Genetic architecture of a complex trait and its implications for fitness and genome-wide association studies
inferredcites →https://doi.org/10.1073/pnas.1019276108openalex-snapshot
Demographic history and rare allele sharing among human populations
inferredcites →https://doi.org/10.1086/321272openalex-snapshot
Are Rare Variants Responsible for Susceptibility to Complex Diseases?
inferredcites →https://doi.org/10.1093/bioinformatics/btn522openalex-snapshot
A flexible forward simulator for populations subject to selection and demography
inferredcites →https://doi.org/10.1093/biostatistics/kxs014openalex-snapshot
Optimal tests for rare variant effects in sequencing association studies
inferredcites →https://doi.org/10.1093/hmg/11.20.2417openalex-snapshot
The allelic architecture of human disease genes: common disease-common variant... or not?
inferredcites →https://doi.org/10.1101/003491openalex-snapshot
Response to a population bottleneck can be used to infer recessive selection
inferredcites →https://doi.org/10.1126/science.1219240openalex-snapshot
Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes
inferredcites →https://doi.org/10.1159/000346826openalex-snapshot
Population Genetics of Rare Variants and Complex Diseases
inferredcites →https://doi.org/10.1371/journal.pgen.1000083openalex-snapshot
Assessing the Evolutionary Impact of Amino Acid Mutations in the Human Genome
inferredcites →https://doi.org/10.1371/journal.pgen.1000384openalex-snapshot
A Groupwise Association Test for Rare Mutations Using a Weighted Sum Statistic
inferredcites →https://doi.org/10.1371/journal.pgen.1000592openalex-snapshot
Evolutionary Processes Acting on Candidate cis-Regulatory Regions in Humans Inferred from Patterns of Polymorphism and Divergence
inferredcites →https://doi.org/10.1371/journal.pgen.1000695openalex-snapshot
Inferring the Joint Demographic History of Multiple Populations from Multidimensional SNP Frequency Data
inferredcites →https://doi.org/10.1371/journal.pgen.1001202openalex-snapshot
An Evolutionary Framework for Association Testing in Resequencing Studies
inferredcites →https://doi.org/10.1371/journal.pgen.1001322openalex-snapshot
Testing for an Unusual Distribution of Rare Variants
inferredcites →https://doi.org/10.1371/journal.pgen.1003258openalex-snapshot
Properties and Modeling of GWAS when Complex Disease Risk Is Due to Non-Complementing, Deleterious Mutations in Genes of Large Effect
inferredcites →https://doi.org/10.1371/journal.pgen.1004379openalex-snapshot
The Impact of Population Demography and Selection on the Genetic Architecture of Complex Traits
inferredcites →https://doi.org/10.1371/journal.pone.0013584openalex-snapshot
Comprehensive Approach to Analyzing Rare Genetic Variants
inferredcites →https://doi.org/10.1534/genetics.113.153973openalex-snapshot
Population Growth Inflates the Per-Individual Number of Deleterious Mutations and Reduces Their Mean Effect
inferredcites →https://doi.org/10.1534/genetics.115.184630openalex-snapshot
When Is Selection Effective?

What points at this work

Incoming claims: where this work appears in other papers’ reference lists and arguments.

inferred← citeshttps://doi.org/10.1038/ng.3390openalex-snapshot
Genetic variance estimation with imputed variants finds negligible missing heritability for human height and body mass index
inferred← citeshttps://doi.org/10.1371/journal.pgen.1006573openalex-snapshot
A Model of Compound Heterozygous, Loss-of-Function Alleles Is Broadly Consistent with Observations from Complex-Disease GWAS Datasets
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