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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Publié dans:BioTechniques. - 1991. - 62(2017), 1 vom: 01. Jan., Seite 18-30
Auteur principal: Jalali Sefid Dashti, Mahjoubeh (Auteur)
Autres auteurs: Gamieldien, Junaid
Format: Article en ligne
Langue:English
Publié: 2017
Accès à la collection:BioTechniques
Sujets: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