Article
A community-based resource for automatic exome variant-calling and annotation in Mendelian disorders.
BMC genomics - 1 Jan 2014
Mutarelli Margherita, Marwah Veer, Rispoli Rossella, Carrella Diego, Dharmalingam Gopuraja, Oliva Gennaro, di Bernardo Diego
Abstract excerpt
BACKGROUND: Mendelian disorders are mostly caused by single mutations in the DNA sequence of a gene, leading to a phenotype with pathologic consequences. Whole Exome Sequencing of patients can be a cost-effective alternative to standard genetic screenings to find causative mutations of genetic diseases, especially when the number of cases is limited. Analyzing exome sequencing data requires specific expertise,...
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