ArticleMolecular genetics and metabolism2012
Recombination mapping using Boolean logic and high-density SNP genotyping for exome sequence filtering.
Article in Molecular genetics and metabolism, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed.
- Clinical, genetic, and structural characterization of a novel TUBB4B tubulinopathy.Molecular genetics and metabolism reports · 2023Article
- The undiagnosed diseases program: Approach to diagnosis.Translational science of rare diseases · 2020Article
- Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails.American journal of human genetics · 2019Article
- Novel variants in SPTAN1 without epilepsy: An expansion of the phenotype.American journal of medical genetics. Part A · 2018Article
- Compound heterozygosity for loss-of-function GARS variants results in a multisystem developmental syndrome that includes severe growth retardation.Human mutation · 2017Article
- Phenotypic evolution of UNC80 loss of function.American journal of medical genetics. Part A · 2016Article
- Explorations to improve the completeness of exome sequencing.BMC medical genomics · 2016Article
- Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes.American journal of human genetics · 2015Article
- MED23-associated intellectual disability in a non-consanguineous family.American journal of medical genetics. Part A · 2015Article
- Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome.Orphanet journal of rare diseases · 2015Article
- Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity.Molecular genetics and metabolism · 2014Article
- An apparent homozygous deletion in maltase-glucoamylase, a lesson in the evolution of SNP arrays.Molecular genetics and metabolism · 2012Article
- Analysis of DNA sequence variants detected by high-throughput sequencing.Human mutation · 2012Article
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Authors and funding
12 authors.
Funding
Abstract
Whole genome sequence data for small pedigrees has been shown to provide sufficient information to resolve detailed haplotypes in small pedigrees. Using such information, recombinations can be mapped onto chromosomes, compared with the segregation of a disease of interest and used to filter genome sequence variants. We now show that relatively inexpensive SNP array data from small pedigrees can be used in a similar manner to provide a means of identifying regions of interest in exome sequencing projects. We demonstrate that in those situations where one can assume complete penetrance and parental DNA is available, SNP recombination mapping using Boolean logic identifies chromosomal regions identical to those detected by multipoint linkage using microsatellites but with much less computation. We further show that this approach is successful because the probability of a double crossover between informative SNP loci is negligible. Our observations provide a rationale for using SNP arrays and recombination mapping as a rapid and cost-effective means of incorporating chromosome segregation information into exome sequencing projects intended for disease-gene identification.
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