Journal article

Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing

Wenyi Wang, Peidong Shen, Sreedevi Thiyagarajan, Shengrong Lin, Curtis Palm, Rita Horvath, Thomas Klopstock, David Cutler, Lynn Pique, Iris Schrijver, Ronald W Davis, Michael Mindrinos, Terence P Speed, Curt Scharfe

NUCLEIC ACIDS RESEARCH | OXFORD UNIV PRESS | Published : 2011

Abstract

A common goal in the discovery of rare functional DNA variants via medical resequencing is to incur a relatively lower proportion of false positive base-calls. We developed a novel statistical method for resequencing arrays (SRMA, sequence robust multi-array analysis) to increase the accuracy of detecting rare variants and reduce the costs in subsequent sequence verifications required in medical applications. SRMA includes single and multi-array analysis and accounts for technical variables as well as the possibility of both low- and high-frequency genomic variation. The confidence of each base-call was ranked using two quality measures. In comparison to Sanger capillary sequencing, we achie..

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University of Melbourne Researchers

Grants

Awarded by National Eye Institute


Awarded by NATIONAL EYE INSTITUTE


Awarded by NATIONAL INSTITUTE OF GENERAL MEDICAL SCIENCES


Funding Acknowledgements

National Eye Institute grant (R01EY016240 to R.W.D. and C.S.); T.K. is a member of MitoNET funded by the German Ministry of Education and Research (BMBF). Funding for open access charge: National Institutes of Health.