Englander Institute for Precision Medicine

Using FunSeq2 for Coding and Non-Coding Variant Annotation and Prioritization.

TitleUsing FunSeq2 for Coding and Non-Coding Variant Annotation and Prioritization.
Publication TypeJournal Article
Year of Publication2017
AuthorsDhingra P, Fu Y, Gerstein M, Khurana E
JournalCurr Protoc Bioinformatics
Volume57
Pagination15.11.1-15.11.17
Date Published2017 May 02
ISSN1934-340X
KeywordsGenome, Genomics, Humans, Molecular Sequence Annotation, Software
Abstract

The identification of non-coding drivers remains a challenge and bottleneck for the use of whole-genome sequencing in the clinic. FunSeq2 is a computational tool for annotation and prioritization of somatic mutations in coding and non-coding regions. It integrates a data context made from large-scale genomic datasets and uses a high-throughput variant prioritization pipeline. This unit provides guidelines for installing and running FunSeq2 to (a) annotate and prioritize variants, (b) incorporate user-defined annotations, and (c) detect differential gene expression. © 2017 by John Wiley & Sons, Inc.

DOI10.1002/cpbi.23
Alternate JournalCurr Protoc Bioinformatics
PubMed ID28463398

Weill Cornell Medicine Englander Institute for Precision Medicine 413 E 69th Street
Belfer Research Building
New York, NY 10021