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Purging of deleterious variants due to drift and founder effect in Italian populations with extended autozygosity

https://doi.org/10.1101/022947
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What this work says

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

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Cross-cultural estimation of the human generation interval for use in genetics-based population divergence studies
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Genomic Patterns of Homozygosity in Worldwide Human Populations
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Length Distributions of Identity by Descent Reveal Fine-Scale Demographic History
inferredcites →https://doi.org/10.1016/j.ajhg.2013.09.002openalex-snapshot
Haplotype Estimation Using Sequencing Reads
inferredcites →https://doi.org/10.1016/j.cub.2011.01.068openalex-snapshot
Inbreeding Depression Is Purged in the Invasive Insect Harmonia axyridis
inferredcites →https://doi.org/10.1016/j.gde.2014.09.005openalex-snapshot
The distribution of deleterious genetic variation in human populations
inferredcites →https://doi.org/10.1016/j.jbi.2011.08.004openalex-snapshot
Computer-based genealogy reconstruction in founder populations
inferredcites →https://doi.org/10.1017/s0016672399003900openalex-snapshot
Dynamics of inbreeding depression due to deleterious mutations in small populations: mutation parameters and inbreeding rate
inferredcites →https://doi.org/10.1023/a:1008800423698openalex-snapshot
Delete-m Jackknife for Unequal m
inferredcites →https://doi.org/10.1038/ejhg.2012.113openalex-snapshot
Small effective population size and genetic homogeneity in the Val Borbera isolate
inferredcites →https://doi.org/10.1038/ejhg.2012.229openalex-snapshot
Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity
inferredcites →https://doi.org/10.1038/nature06611openalex-snapshot
Proportionally more deleterious genetic variation in European than in African populations
inferredcites →https://doi.org/10.1038/nature09534openalex-snapshot
A map of human genome variation from population-scale sequencing
inferredcites →https://doi.org/10.1038/nature11632openalex-snapshot
An integrated map of genetic variation from 1,092 human genomes
inferredcites →https://doi.org/10.1038/ncomms1130openalex-snapshot
Deep resequencing reveals excess rare recent variants consistent with explosive population growth
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.3021openalex-snapshot
Whole-genome sequence variation, population structure and demographic history of the Dutch population
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.806openalex-snapshot
A framework for variation discovery and genotyping using next-generation DNA sequencing data
inferredcites →https://doi.org/10.1038/ng1094-117openalex-snapshot
The costs of human inbreeding and their implications for variations at the DNA level
inferredcites →https://doi.org/10.1038/nrg2664openalex-snapshot
The genetics of inbreeding depression
inferredcites →https://doi.org/10.1073/pnas.1019276108openalex-snapshot
Demographic history and rare allele sharing among human populations
inferredcites →https://doi.org/10.1086/302198openalex-snapshot
Inbreeding Effects on Fertility in Humans: Evidence for Reproductive Compensation
inferredcites →https://doi.org/10.1086/303312openalex-snapshot
The Effects of a Bottleneck on Inbreeding Depression and the Genetic Load
inferredcites →https://doi.org/10.1086/521987openalex-snapshot
Rapid and Accurate Haplotype Phasing and Missing-Data Inference for Whole-Genome Association Studies By Use of Localized Haplotype Clustering
inferredcites →https://doi.org/10.1093/bioinformatics/btp352openalex-snapshot
The Sequence Alignment/Map format and SAMtools
inferredcites →https://doi.org/10.1093/bioinformatics/btq330openalex-snapshot
Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor
inferredcites →https://doi.org/10.1093/bioinformatics/btq559openalex-snapshot
Robust relationship inference in genome-wide association studies
inferredcites →https://doi.org/10.1093/genetics/150.1.435openalex-snapshot
Bottleneck Effect on Genetic Variance: A Theoretical Investigation of the Role of Dominance
inferredcites →https://doi.org/10.1093/genetics/160.3.1191openalex-snapshot
Selection, Load and Inbreeding Depression in a Large Metapopulation
inferredcites →https://doi.org/10.1093/genetics/37.2.189openalex-snapshot
THE EFFECT OF INBREEDING ON THE VARIATION DUE TO RECESSIVE GENES
inferredcites →https://doi.org/10.1093/nar/29.1.308openalex-snapshot
dbSNP: the NCBI database of genetic variation
inferredcites →https://doi.org/10.1101/003491openalex-snapshot
Response to a population bottleneck can be used to infer recessive selection
inferredcites →https://doi.org/10.1101/gr.081398.108openalex-snapshot
Whole population, genome-wide mapping of hidden relatedness
inferredcites →https://doi.org/10.1101/gr.094052.109openalex-snapshot
Fast model-based estimation of ancestry in unrelated individuals
inferredcites →https://doi.org/10.1101/gr.146084.112openalex-snapshot
An integrative variant analysis pipeline for accurate genotype/haplotype inference in population NGS data
inferredcites →https://doi.org/10.1111/j.0014-3820.2003.tb01512.xopenalex-snapshot
HOW ARE DELETERIOUS MUTATIONS PURGED? DRIFT VERSUS NONRANDOM MATING
inferredcites →https://doi.org/10.1111/j.1420-9101.2010.02013.xopenalex-snapshot
Inbred women in a small and isolated Swiss village have fewer children
inferredcites →https://doi.org/10.1126/science.1150232openalex-snapshot
An Association Between the Kinship and Fertility of Human Couples
inferredcites →https://doi.org/10.1126/science.1215040openalex-snapshot
A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes
inferredcites →https://doi.org/10.1126/science.1217283openalex-snapshot
Recent Explosive Human Population Growth Has Resulted in an Excess of Rare Genetic Variants
inferredcites →https://doi.org/10.1126/science.2028254openalex-snapshot
Reproductive Behavior and Health in Consanguineous Marriages
inferredcites →https://doi.org/10.1126/science.aaa3952openalex-snapshot
Mountain gorilla genomes reveal the impact of long-term population decline and inbreeding
inferredcites →https://doi.org/10.1136/jmg.40.12.925openalex-snapshot
Inbreeding and risk of late onset complex disease
inferredcites →https://doi.org/10.1159/000053356openalex-snapshot
Consanguinity and Prereproductive Mortality in the Utah Mormon Population
inferredcites →https://doi.org/10.1159/000363105openalex-snapshot
The kinship2 R Package for Pedigree Data
inferredcites →https://doi.org/10.1371/journal.pgen.0020190openalex-snapshot
Population Structure and Eigenanalysis
inferredcites →https://doi.org/10.1371/journal.pgen.1000529openalex-snapshot
A Flexible and Accurate Genotype Imputation Method for the Next Generation of Genome-Wide Association Studies
inferredcites →https://doi.org/10.1371/journal.pgen.1003527openalex-snapshot
Strong Purifying Selection at Synonymous Sites in D. melanogaster
inferredcites →https://doi.org/10.1371/journal.pgen.1003815openalex-snapshot
Whole-Exome Sequencing Reveals a Rapid Change in the Frequency of Rare Functional Variants in a Founding Population of Humans
inferredcites →https://doi.org/10.1371/journal.pgen.1005436openalex-snapshot
Dominance of Deleterious Alleles Controls the Response to a Population Bottleneck
inferredcites →https://doi.org/10.1371/journal.pone.0007554openalex-snapshot
Heritability and Demographic Analyses in the Large Isolated Population of Val Borbera Suggest Advantages in Mapping Complex Traits Genes
inferredcites →https://doi.org/10.1534/g3.111.001198openalex-snapshot
Genotype Imputation with Thousands of Genomes
inferredcites →https://doi.org/10.1534/genetics.108.090597openalex-snapshot
A Simple Method to Account for Natural Selection When Predicting Inbreeding Depression
inferredcites →https://doi.org/10.1534/genetics.113.150029openalex-snapshot
Improving the Accuracy and Efficiency of Identity-by-Descent Detection in Population Data
inferredcites →https://doi.org/10.1534/genetics.113.152181openalex-snapshot
SLiM: Simulating Evolution with Selection and Linkage
inferredcites →https://doi.org/10.1534/genetics.115.184630openalex-snapshot
When Is Selection Effective?
inferredcites →https://doi.org/10.3233/isb-00142openalex-snapshot
Distributions of Exons and Introns in the Human Genome

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inferred← citeshttps://doi.org/10.1016/j.gde.2016.09.006openalex-snapshot
The impact of recent population history on the deleterious mutation load in humans and close evolutionary relatives
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