Genomics

Dataset Information

0

Ena-DATASET-VUMC-CCA-18-03-2014-11:02:55:717-600 - samples


ABSTRACT: Description not provided

PROVIDER: EGAD00001000780 | EGA |

REPOSITORIES: EGA

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Publications

DNA copy number analysis of fresh and formalin-fixed specimens by shallow whole-genome sequencing with identification and exclusion of problematic regions in the genome assembly.

Scheinin Ilari I   Sie Daoud D   Bengtsson Henrik H   van de Wiel Mark A MA   Olshen Adam B AB   van Thuijl Hinke F HF   van Essen Hendrik F HF   Eijk Paul P PP   Rustenburg François F   Meijer Gerrit A GA   Reijneveld Jaap C JC   Wesseling Pieter P   Pinkel Daniel D   Albertson Donna G DG   Ylstra Bauke B  

Genome research 20140918 12


Detection of DNA copy number aberrations by shallow whole-genome sequencing (WGS) faces many challenges, including lack of completion and errors in the human reference genome, repetitive sequences, polymorphisms, variable sample quality, and biases in the sequencing procedures. Formalin-fixed paraffin-embedded (FFPE) archival material, the analysis of which is important for studies of cancer, presents particular analytical difficulties due to degradation of the DNA and frequent lack of matched r  ...[more]

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