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Array based resequencing of 524 genes from human disease patients and healthy samples, including 5 HapMap controls to investigate use of long padlock probes (LPP) for exon capture

ABSTRACT: This is a custom Affymetrix resequencing array for DNA sequencing of the entire coding region and exon-splice sites of 524 human genes (5471 exons; 0.8Mb genomic DNA). These nuclear genes encode proteins localized to mitochondria and include known disease genes (i.e. POLG, LRRK2) and new candidate genes for mitochondrial disorders. We sequenced 63 samples including both cases and controls using this array.

ORGANISM(S): Homo sapiens

DISEASE(S): mitochondrial disease

SUBMITTER: Curt Scharfe 

PROVIDER: E-MTAB-499 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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High-quality DNA sequence capture of 524 disease candidate genes.

Shen Peidong P   Wang Wenyi W   Krishnakumar Sujatha S   Palm Curtis C   Chi Aung-Kyaw AK   Enns Gregory M GM   Davis Ronald W RW   Speed Terence P TP   Mindrinos Michael N MN   Scharfe Curt C  

Proceedings of the National Academy of Sciences of the United States of America 20110405 16

The accurate and complete selection of candidate genomic regions from a DNA sample before sequencing is critical in molecular diagnostics. Several recently developed technologies await substantial improvements in performance, cost, and multiplex sample processing. Here we present the utility of long padlock probes (LPPs) for targeted exon capture followed by array-based sequencing. We found that on average 92% of 5,471 exons from 524 nuclear-encoded mitochondrial genes were successfully amplifie  ...[more]

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