ArticleBioinformatics (Oxford, England)2011
Identity-by-descent filtering of exome sequence data for disease-gene identification in autosomal recessive disorders.
Article in Bioinformatics (Oxford, England), 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 31 citations in OpenAlex.
- A homozygous TRIP13 pathogenic variant associated with familiar oocyte arrest and prematurely condensed sperm chromosomes.Molecular cytogenetics · 2025Article
- Shared genomic segment analysis with equivalence testing.Genetic epidemiology · 2020Article
- Parente2: a fast and accurate method for detecting identity by descent.Genome research · 2015Article
- Article
- Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases.Bioinformatics (Oxford, England) · 2014Article
- Using familial information for variant filtering in high-throughput sequencing studies.Human genetics · 2014Review
- Ataxia and hypogonadism caused by the loss of ubiquitin ligase activity of the U box protein CHIP.Human molecular genetics · 2014Article
- Improved exome prioritization of disease genes through cross-species phenotype comparison.Genome research · 2014Article
- HapFABIA: identification of very short segments of identity by descent characterized by rare variants in large sequencing data.Nucleic acids research · 2013Article
- Filtering for compound heterozygous sequence variants in non-consanguineous pedigrees.PloS one · 2013Article
- Article
- Unlocking the bottleneck in forward genetics using whole-genome sequencing and identity by descent to isolate causative mutations.PLoS genetics · 2013Article
- A comprehensive framework for prioritizing variants in exome sequencing studies of Mendelian diseases.Nucleic acids research · 2012Article
- Reducing the exome search space for mendelian diseases using genetic linkage analysis of exome genotypes.Genome biology · 2011Article
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
motivationNext-generation sequencing and exome-capture technologies are currently revolutionizing the way geneticists screen for disease-causing mutations in rare Mendelian disorders. However, the identification of causal mutations is challenging due to the sheer number of variants that are identified in individual exomes. Although databases such as dbSNP or HapMap can be used to reduce the plethora of candidate genes by filtering out common variants, the remaining set of genes still remains on the order of dozens.
resultsOur algorithm uses a non-homogeneous hidden Markov model that employs local recombination rates to identify chromosomal regions that are identical by descent (IBD = 2) in children of consanguineous or non-consanguineous parents solely based on genotype data of siblings derived from high-throughput sequencing platforms. Using simulated and real exome sequence data, we show that our algorithm is able to reduce the search space for the causative disease gene to a fifth or a tenth of the entire exome. AVAILABILITY: An R script and an accompanying tutorial are available at http://compbio.charite.de/index.php/ibd2.html.
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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.