Mutation mapping and identification by whole-genome sequencing.

doi:10.1101/gr.135541.111

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Article

Mutation mapping and identification by whole-genome sequencing.

Genome research - 1 Aug 2012

Leshchiner Ignaty, Alexa Kristen, Kelsey Peter, Adzhubei Ivan, Austin-Tse Christina A, Cooney Jeffrey D, Anderson Heidi, King Matthew J, Stottmann Rolf W, Garnaas Maija K, Ha Seungshin, Drummond Iain A, Paw Barry H, North Trista E, Beier David R, Goessling Wolfram, Sunyaev Shamil R

Abstract excerpt

Genetic mapping of mutations in model systems has facilitated the identification of genes contributing to fundamental biological processes including human diseases. However, this approach has historically required the prior characterization of informative markers. Here we report a fast and cost-effective method for genetic mapping using next-generation sequencing that combines single nucleotide polymorphism...

Topics

Alleles
Animals
Chromosome Mapping
Chromosomes
Crosses, Genetic
DNA Mutational Analysis
Female
Gene Frequency
Genomics
Homozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Markov Chains

Mice

Mice, Inbred C57BL

Mutation

Polymorphism, Single Nucleotide

Recombination, Genetic

Software

Source

Open in PubMed Open full text

Identifiers

PMID: 22555591
DOI: 10.1101/gr.135541.111
PMCID: PMC3409267

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