ReviewHuman genetics2013
The application of next-generation sequencing in the autozygosity mapping of human recessive diseases.
Review in Human genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 67 papers.
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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.
The trial behind it
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
67 citing papers in PubMed, 113 citations in OpenAlex.
- Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.Genome biology · 2020Trial
- Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.The Journal of clinical investigation · 2015Trial
- Genomics of rare diseases in the Greater Middle East.Nature genetics · 2025Review
- Founder mutations and rare disease in the Arab world.Disease models & mechanisms · 2024Review
- The transition from genomics to phenomics in personalized population health.Nature reviews. Genetics · 2024Review
- Autosomal recessiveFrontiers in immunology · 2023Article
- Mitochondrial "dysmorphology" in variant classification.Human genetics · 2022Article
- ASTL is mutated in female infertility.Human genetics · 2022Article
- Case Report: A Novel Homozygous Missense Variant ofFrontiers in genetics · 2022Article
- Whole exome sequencing in 17 consanguineous Iranian pedigrees expands the mutational spectrum of inherited retinal dystrophies.Scientific reports · 2021Observational
- Mapping the genetic basis of diabetes mellitus in the Australian Burmese cat (Felis catus).Scientific reports · 2020Article
- CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities.American journal of human genetics · 2020Article
- Multiple Family Members With Delayed Cord Separtion and Combined Immunodeficiency With Novel Mutation inFrontiers in pediatrics · 2020Article
- AUDACITY: A comprehensive approach for the detection and classification of Runs of Homozygosity in medical and population genomics.Computational and structural biotechnology journal · 2020Article
- Article
- MDH1 deficiency is a metabolic disorder of the malate-aspartate shuttle associated with early onset severe encephalopathy.Human genetics · 2019Article
- Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.American journal of human genetics · 2019Article
- Identification of novel loci for pediatric cholestatic liver disease defined by KIF12, PPM1F, USP53, LSR, and WDR83OS pathogenic variants.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans.American journal of human genetics · 2019Article
7 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Autozygosity, or the inheritance of two copies of an ancestral allele, has the potential to not only reveal phenotypes caused by biallelic mutations in autosomal recessive genes, but to also facilitate the mapping of such mutations by flagging the surrounding haplotypes as tractable runs of homozygosity (ROH), a process known as autozygosity mapping. Since SNPs replaced microsatellites as markers for the purpose of genomewide identification of ROH, autozygosity mapping of Mendelian genes has witnessed a significant acceleration. Historically, successful mapping traditionally required favorable family structure that permits the identification of an autozygous interval that is amenable to candidate gene selection and confirmation by Sanger sequencing. This requirement presented a major bottleneck that hindered the utilization of simplex cases and many multiplex families with autosomal recessive phenotypes. However, the advent of next-generation sequencing that enables massively parallel sequencing of DNA has largely bypassed this bottleneck and thus ushered in an era of unprecedented pace of Mendelian disease gene discovery. The ability to identify a single causal mutation among a massive number of variants that are uncovered by next-generation sequencing can be challenging, but applying autozygosity as a filter can greatly enhance the enrichment process and its throughput. This review will discuss the power of combining the best of both techniques in the mapping of recessive disease genes and offer some tips to troubleshoot potential limitations.
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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.