ArticlePloS one2013
Filtering for compound heterozygous sequence variants in non-consanguineous pedigrees.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 1 of them a synthesis that pooled it.
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Who cites it
27 citing papers in PubMed, 1 synthesis or guideline pooled it, 47 citations in OpenAlex.
- Prognostic value of pathogenic variants in Lafora Disease: systematic review and meta-analysis of patient-level data.Orphanet journal of rare diseases · 2023Pooled it
- Whole exome sequencing identifies ABHD14A and MRNIP as novel candidate genes for developmental language disorder.Scientific reports · 2025Article
- A Family-Based Study of Inherited Genetic Risk in Lipedema.Lymphatic research and biology · 2024Article
- LoFTK: a framework for fully automated calculation of predicted Loss-of-Function variants and genes.BioData mining · 2023Article
- Clinical exome sequencing-Mistakes and caveats.Human mutation · 2022Review
- ZIP11 Regulates Nuclear Zinc Homeostasis in HeLa Cells and Is Required for Proliferation and Establishment of the Carcinogenic Phenotype.Frontiers in cell and developmental biology · 2022Article
- Detecting Causal Variants in Mendelian Disorders Using Whole-Genome Sequencing.Methods in molecular biology (Clifton, N.J.) · 2021Review
- Article
- Mutation-Specific Guide RNA for Compound Heterozygous Porphyria On-target Scarless Correction by CRISPR/Cas9 in Stem Cells.Stem cell reports · 2020Article
- Compound Heterozygous Variants in Pediatric Cancers: A Systematic Review.Frontiers in genetics · 2020Review
- CompoundHetVIP: Compound Heterozygous Variant Identification Pipeline.F1000Research · 2020Article
- Microcephaly, short stature, and limb abnormality disorder due to novel autosomal biallelic DONSON mutations in two German siblings.European journal of human genetics : EJHG · 2018Article
- A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.Molecular genetics & genomic medicine · 2018Article
- VarAFT: a variant annotation and filtration system for human next generation sequencing data.Nucleic acids research · 2018Article
- DOMINO: Using Machine Learning to Predict Genes Associated with Dominant Disorders.American journal of human genetics · 2017Article
- The population genetics of human disease: The case of recessive, lethal mutations.PLoS genetics · 2017Article
- Genomic translational research: Paving the way to individualized cardiac functional analyses and personalized cardiology.International journal of cardiology · 2017Review
- A likelihood ratio-based method to predict exact pedigrees for complex families from next-generation sequencing data.Bioinformatics (Oxford, England) · 2017Article
- Whole genome sequencing of an African American family highlights toll like receptor 6 variants in Kawasaki disease susceptibility.PloS one · 2017Article
- FamPipe: An Automatic Analysis Pipeline for Analyzing Sequencing Data in Families for Disease Studies.PLoS computational biology · 2016Article
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
Abstract
The identification of disease-causing mutations in next-generation sequencing (NGS) data requires efficient filtering techniques. In patients with rare recessive diseases, compound heterozygosity of pathogenic mutations is the most likely inheritance model if the parents are non-consanguineous. We developed a web-based compound heterozygous filter that is suited for data from NGS projects and that is easy to use for non-bioinformaticians. We analyzed the power of compound heterozygous mutation filtering by deriving background distributions for healthy individuals from different ethnicities and studied the effectiveness in trios as well as more complex pedigree structures. While usually more then 30 genes harbor potential compound heterozygotes in single exomes, this number can be markedly reduced with every additional member of the pedigree that is included in the analysis. In a real data set with exomes of four family members, two sisters affected by Mabry syndrome and their healthy parents, the disease-causing gene PIGO, which harbors the pathogenic compound heterozygous variants, could be readily identified. Compound heterozygous filtering is an efficient means to reduce the number of candidate mutations in studies aiming at identifying recessive disease genes in non-consanguineous families. A web-server is provided to make this filtering strategy available at www.gene-talk.de.
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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.