A practical guide to filtering and prioritizing genetic variants

Next-generation sequencing (NGS) of whole genomes and exomes is a powerful tool in biomedical research and clinical diagnostics. However, the vast amount of data produced by NGS introduces new challenges and opportunities, many of which require novel computational and theoretical approaches when it...

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Bibliographische Detailangaben
Veröffentlicht in:BioTechniques. - 1991. - 62(2017), 1 vom: 01. Jan., Seite 18-30
1. Verfasser: Jalali Sefid Dashti, Mahjoubeh (VerfasserIn)
Weitere Verfasser: Gamieldien, Junaid
Format: Online-Aufsatz
Sprache:English
Veröffentlicht: 2017
Zugriff auf das übergeordnete Werk:BioTechniques
Schlagworte:Journal Article Research Support, Non-U.S. Gov't Research Support, N.I.H., Extramural functional variants variant prioritization whole-exome sequencing whole-genome sequencing