Genomics

Dataset Information

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JKU and MUI Data Access Committee for targeted NGS panel data

ABSTRACT: Data Access Committee EGAC00001000669

PROVIDER: EGAC00001000669 | EGA |

REPOSITORIES: EGA

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Publications

panelcn.MOPS: Copy-number detection in targeted NGS panel data for clinical diagnostics.

Povysil Gundula G   Tzika Antigoni A   Vogt Julia J   Haunschmid Verena V   Messiaen Ludwine L   Zschocke Johannes J   Klambauer Günter G   Hochreiter Sepp S   Wimmer Katharina K  

Human mutation 20170516 7

Targeted next-generation-sequencing (NGS) panels have largely replaced Sanger sequencing in clinical diagnostics. They allow for the detection of copy-number variations (CNVs) in addition to single-nucleotide variants and small insertions/deletions. However, existing computational CNV detection methods have shortcomings regarding accuracy, quality control (QC), incidental findings, and user-friendliness. We developed panelcn.MOPS, a novel pipeline for detecting CNVs in targeted NGS panel data. U  ...[more]

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