ArticleAmerican journal of human genetics2014
Exome-based mapping and variant prioritization for inherited Mendelian disorders.
Article in American journal of human genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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Who cites it
30 citing papers in PubMed, 40 citations in OpenAlex.
- Genomic analysis of germ line and somatic variants in familial myelodysplasia/acute myeloid leukemia.Blood · 2015Trial
- Variant ranking pipeline for complex familial disorders.Scientific reports · 2024Article
- A domestic cat whole exome sequencing resource for trait discovery.Scientific reports · 2021Article
- Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy.American journal of human genetics · 2020Article
- Heterozygosity mapping for human dominant trait variants.Human mutation · 2019Article
- Identification of Rare Variants Predisposing to Thyroid Cancer.Thyroid : official journal of the American Thyroid Association · 2019Article
- Whole Exome Sequencing Identifies a Novel Predisposing Gene, MAPKAP1, for Familial Mixed Mood Disorder.Frontiers in genetics · 2019Article
- Article
- VCF.Filter: interactive prioritization of disease-linked genetic variants from sequencing data.Nucleic acids research · 2017Article
- Assigning clinical meaning to somatic and germ-line whole-exome sequencing data in a prospective cancer precision medicine study.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Article
- REEP6 mediates trafficking of a subset of Clathrin-coated vesicles and is critical for rod photoreceptor function and survival.Human molecular genetics · 2017Article
- A pipeline combining multiple strategies for prioritizing heterozygous variants for the identification of candidate genes in exome datasets.Human genomics · 2017Article
- A Novel Dominant Mutation in SAG, the Arrestin-1 Gene, Is a Common Cause of Retinitis Pigmentosa in Hispanic Families in the Southwestern United States.Investigative ophthalmology & visual science · 2017Article
- Gene-based segregation method for identifying rare variants in family-based sequencing studies.Genetic epidemiology · 2017Article
- PERCH: A Unified Framework for Disease Gene Prioritization.Human mutation · 2017Article
- Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.Endocrine reviews · 2016Review
- Genome-wide significance testing of variation from single case exomes.Nature genetics · 2016Article
- Molecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome Sequencing.Investigative ophthalmology & visual science · 2016Article
- FamPipe: An Automatic Analysis Pipeline for Analyzing Sequencing Data in Families for Disease Studies.PLoS computational biology · 2016Article
- Mutations of RagA GTPase in mTORC1 Pathway Are Associated with Autosomal Dominant Cataracts.PLoS genetics · 2016Article
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Authors and funding
13 authors at 4 institutions in 1 country.
Funding
Abstract
Exome sequencing in families affected by rare genetic disorders has the potential to rapidly identify new disease genes (genes in which mutations cause disease), but the identification of a single causal mutation among thousands of variants remains a significant challenge. We developed a scoring algorithm to prioritize potential causal variants within a family according to segregation with the phenotype, population frequency, predicted effect, and gene expression in the tissue(s) of interest. To narrow the search space in families with multiple affected individuals, we also developed two complementary approaches to exome-based mapping of autosomal-dominant disorders. One approach identifies segments of maximum identity by descent among affected individuals; the other nominates regions on the basis of shared rare variants and the absence of homozygous differences between affected individuals. We showcase our methods by using exome sequence data from families affected by autosomal-dominant retinitis pigmentosa (adRP), a rare disorder characterized by night blindness and progressive vision loss. We performed exome capture and sequencing on 91 samples representing 24 families affected by probable adRP but lacking common disease-causing mutations. Eight of 24 families (33%) were revealed to harbor high-scoring, most likely pathogenic (by clinical assessment) mutations affecting known RP genes. Analysis of the remaining 17 families identified candidate variants in a number of interesting genes, some of which have withstood further segregation testing in extended pedigrees. To empower the search for Mendelian-disease genes in family-based sequencing studies, we implemented them in a cross-platform-compatible software package, MendelScan, which is freely available to the research community.
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