Literature DB >> 30649721

Biological Interpretation of Complex Genomic Data.

Kathleen M Fisch1.   

Abstract

Tumor genomic profiling involves analyzing many data types to produce a molecular profile of a tumor. Many of these analyses result in a prioritized list of genes or variants for further study. Interpretation of these lists relies upon annotating and extracting biological meaning through literature and manually curated knowledge bases. This chapter will describe several of these approaches including gene annotation, variant annotation, clinical annotation, functional enrichment analyses, and network analyses. Taken together or individually, these analyses will result in a biological understanding of complex genomic data to improve clinical decision making.

Entities:  

Keywords:  Bioinformatics; Computational biology; Functional enrichment; Genomic interpretation; Network analysis; Pathway analysis; Variant annotation

Mesh:

Year:  2019        PMID: 30649721      PMCID: PMC7269365          DOI: 10.1007/978-1-4939-9004-7_5

Source DB:  PubMed          Journal:  Methods Mol Biol        ISSN: 1064-3745


  39 in total

1.  Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion.

Authors:  J T den Dunnen; S E Antonarakis
Journal:  Hum Mutat       Date:  2000       Impact factor: 4.878

Review 2.  Standardized decision support in next generation sequencing reports of somatic cancer variants.

Authors:  Rodrigo Dienstmann; Fei Dong; Darrell Borger; Dora Dias-Santagata; Leif W Ellisen; Long P Le; A John Iafrate
Journal:  Mol Oncol       Date:  2014-04-04       Impact factor: 6.603

3.  Interactive network visualization in Jupyter notebooks: visJS2jupyter.

Authors:  Sara Brin Rosenthal; Julia Len; Mikayla Webster; Aaron Gary; Amanda Birmingham; Kathleen M Fisch
Journal:  Bioinformatics       Date:  2018-01-01       Impact factor: 6.937

4.  The Cancer Genome Atlas Pan-Cancer analysis project.

Authors:  John N Weinstein; Eric A Collisson; Gordon B Mills; Kenna R Mills Shaw; Brad A Ozenberger; Kyle Ellrott; Ilya Shmulevich; Chris Sander; Joshua M Stuart
Journal:  Nat Genet       Date:  2013-10       Impact factor: 38.330

5.  Multiplatform analysis of 12 cancer types reveals molecular classification within and across tissues of origin.

Authors:  Katherine A Hoadley; Christina Yau; Denise M Wolf; Andrew D Cherniack; David Tamborero; Sam Ng; Max D M Leiserson; Beifang Niu; Michael D McLellan; Vladislav Uzunangelov; Jiashan Zhang; Cyriac Kandoth; Rehan Akbani; Hui Shen; Larsson Omberg; Andy Chu; Adam A Margolin; Laura J Van't Veer; Nuria Lopez-Bigas; Peter W Laird; Benjamin J Raphael; Li Ding; A Gordon Robertson; Lauren A Byers; Gordon B Mills; John N Weinstein; Carter Van Waes; Zhong Chen; Eric A Collisson; Christopher C Benz; Charles M Perou; Joshua M Stuart
Journal:  Cell       Date:  2014-08-07       Impact factor: 41.582

6.  COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer.

Authors:  Simon A Forbes; Nidhi Bindal; Sally Bamford; Charlotte Cole; Chai Yin Kok; David Beare; Mingming Jia; Rebecca Shepherd; Kenric Leung; Andrew Menzies; Jon W Teague; Peter J Campbell; Michael R Stratton; P Andrew Futreal
Journal:  Nucleic Acids Res       Date:  2010-10-15       Impact factor: 16.971

7.  A general framework for estimating the relative pathogenicity of human genetic variants.

Authors:  Martin Kircher; Daniela M Witten; Preti Jain; Brian J O'Roak; Gregory M Cooper; Jay Shendure
Journal:  Nat Genet       Date:  2014-02-02       Impact factor: 38.330

8.  ToppGene Suite for gene list enrichment analysis and candidate gene prioritization.

Authors:  Jing Chen; Eric E Bardes; Bruce J Aronow; Anil G Jegga
Journal:  Nucleic Acids Res       Date:  2009-05-22       Impact factor: 16.971

9.  BioGPS and MyGene.info: organizing online, gene-centric information.

Authors:  Chunlei Wu; Ian Macleod; Andrew I Su
Journal:  Nucleic Acids Res       Date:  2012-11-21       Impact factor: 16.971

10.  STRING v9.1: protein-protein interaction networks, with increased coverage and integration.

Authors:  Andrea Franceschini; Damian Szklarczyk; Sune Frankild; Michael Kuhn; Milan Simonovic; Alexander Roth; Jianyi Lin; Pablo Minguez; Peer Bork; Christian von Mering; Lars J Jensen
Journal:  Nucleic Acids Res       Date:  2012-11-29       Impact factor: 16.971

View more
  1 in total

1.  Evaluating the predictive accuracy of curated biological pathways in a public knowledgebase.

Authors:  Adam J Wright; Marija Orlic-Milacic; Karen Rothfels; Joel Weiser; Quang M Trinh; Bijay Jassal; Robin A Haw; Lincoln D Stein
Journal:  Database (Oxford)       Date:  2022-03-28       Impact factor: 4.462

  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.