ArticleAmerican journal of human genetics2012
A population-based study of autosomal-recessive disease-causing mutations in a founder population.
Article in American journal of human genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
34 citing papers in PubMed, 61 citations in OpenAlex.
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- The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.International journal of molecular sciences · 2024Review
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- Fine-scale genetic structure and rare variant frequencies.PloS one · 2024Article
- Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality.Nature communications · 2023Article
- GENLIB: new function to simulate haplotype transmission in large complex genealogies.Bioinformatics (Oxford, England) · 2023Article
- Global Distribution of Founder Variants Associated with Non-Syndromic Hearing Impairment.Genes · 2023Review
- Insights into National Laboratory Newborn Screening and Future Prospects.Medicina (Kaunas, Lithuania) · 2022Review
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- The genetic architecture of Stargardt macular dystrophy (STGD1): a longitudinal 40-year study in a genetic isolate.European journal of human genetics : EJHG · 2020Article
- Estimating carrier frequencies of newborn screening disorders using a whole-genome reference panel of 3552 Japanese individuals.Human genetics · 2019Article
- Whole-Exome Sequencing in the Isolated Populations of Cilento from South Italy.Scientific reports · 2019Article
- The frequency of SMN gene variants lacking exon 7 and 8 is highly population dependent.PloS one · 2019Article
- Inferring Transmission Histories of Rare Alleles in Population-Scale Genealogies.American journal of human genetics · 2018Article
- Carrier frequency analysis of mutations causing autosomal-recessive-inherited retinal diseases in the Israeli population.European journal of human genetics : EJHG · 2018Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
The decreasing cost of whole-genome and whole-exome sequencing has resulted in a renaissance for identifying Mendelian disease mutations, and for the first time it is possible to survey the distribution and characteristics of these mutations in large population samples. We conducted carrier screening for all autosomal-recessive (AR) mutations known to be present in members of a founder population and revealed surprisingly high carrier frequencies for many of these mutations. By utilizing the rich demographic, genetic, and phenotypic data available on these subjects and simulations in the exact pedigree that these individuals belong to, we show that the majority of mutations were most likely introduced into the population by a single founder and then drifted to the high carrier frequencies observed. We further show that although there is an increased incidence of AR diseases overall, the mean carrier burden is likely to be lower in the Hutterites than in the general population. Finally, on the basis of simulations, we predict the presence of 30 or more undiscovered recessive mutations among these subjects, and this would at least double the number of AR diseases that have been reported in this isolated population.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.