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Article

Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis.

Genome research - 1 May 2011

Erlich Yaniv, Edvardson Simon, Hodges Emily, Zenvirt Shamir, Thekkat Pramod, Shaag Avraham, Dor Talya, Hannon Gregory J, Elpeleg Orly

Abstract excerpt

Whole exome sequencing has become a pivotal methodology for rapid and cost-effective detection of pathogenic variations in Mendelian disorders. A major challenge of this approach is determining the causative mutation from a substantial number of bystander variations that do not play any role in the disease etiology. Current strategies to analyze variations have mainly relied on genetic and functional arguments...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 21487076
DOI: 10.1101/gr.117143.110
PMCID: PMC3083082

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