ArticleJournal of human genetics2016
HDR: a statistical two-step approach successfully identifies disease genes in autosomal recessive families.
Article in Journal of human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed.
- Mitochondrial cardiomyopathy: bridging molecular mechanisms and clinical frontiers.Nature reviews. Cardiology · 2026Review
- Successful Diagnosis of Sengers Syndrome Using a Comprehensive Genomic Analysis.Molecular genetics & genomic medicine · 2025Article
- Population genetics: past, present, and future.Human genetics · 2021Review
- A novel homozygous variant in MICOS13/QIL1 causes hepato-encephalopathy with mitochondrial DNA depletion syndrome.Molecular genetics & genomic medicine · 2020Article
- Maximal Segmental Score Method for Localizing Recessive Disease Variants Based on Sequence Data.Frontiers in genetics · 2020Article
- Low-frequency and rare variants may contribute to elucidate the genetics of major depressive disorder.Translational psychiatry · 2018Article
- To aggregate or not, that is the question. A commentary on single-nucleotide variant proportion in genes: a new concept to explore major depression based on DNA sequencing data.Journal of human genetics · 2017Article
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Authors and funding
9 authors.
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Abstract
In the search for sequence variants underlying disease, commonly applied filtering steps usually result in a number of candidate variants that cannot further be narrowed down. In autosomal recessive families, disease usually occurs only in one generation so that genetic linkage analysis is unlikely to help. Because homozygous recessive mutations tend to be inherited together with flanking homozygous variants, we developed a statistical method to detect pathogenic variants in autosomal recessive families: We look for differences in patterns of homozygosity around candidate variants between patients and control individuals and expect that such differences are greater for pathogenic variants than random candidate variants. In six autosomal recessive mitochondrial disease families, in which pathogenic homozygous variants have already been identified, our approach succeeded in prioritizing pathogenic mutations. Our method is applicable to single patients from recessive families with at least a few dozen control individuals from the same population; it is easy to use and is highly effective for detecting causative mutations in autosomal recessive families.
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