Personalized copy number and segmental duplication maps using next-generation sequencing

Personalized copy number and segmental duplication maps using next-generation sequencing

Alkan C;Kidd JM;Marques-Bonet T;Aksay G;Antonacci F;Hormozdiari F;Kitzman JO;Baker C;Malig M;Mutlu O;Sahinalp SC;Gibbs RA;Eichler EE;;
nature genetics 2009 Vol. 41 pp. -
250
c2009naturepersonalized

Abstract

Despite their importance in gene innovation and phenotypic variation, duplicated regions have remained largely intractable owing to difficulties in accurately resolving their structure, copy number and sequence content. We present an algorithm (mrFAST) to comprehensively map next-generation sequence …

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