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Array-based resequencing of human mitochondrial disease patient samples to identify rare DNA variants

ABSTRACT: This is a custom Affymetrix resequencing array for DNA sequencing of the entire coding region and exon-splice sites of 39 human genes (452 exons; 106,337 bases). These nuclear genes encode proteins localized to mitochondria and include known disease genes (i.e. POLG, C10orf2) and new candidate genes for mtDNA maintenance disorders. We sequenced 27 patient (P) and 13 control (C) samples using this array.

ORGANISM(S): Homo sapiens

DISEASE(S): mitochondrial disease

SUBMITTER: Curt Scharfe

PROVIDER: E-MTAB-346 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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

Wang Wenyi W Shen Peidong P Thiyagarajan Sreedevi S Lin Shengrong S Palm Curtis C Horvath Rita R Klopstock Thomas T Cutler David D Pique Lynn L Schrijver Iris I Davis Ronald W RW Mindrinos Michael M Speed Terence P TP Scharfe Curt C

Nucleic acids research 20100915 1

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 w ...[more]

PMID: 20843780

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