Literature DB >> 35230689

Computational Resources for the Interpretation of Variations in Cancer.

Grete Francesca Privitera1,2, Salvatore Alaimo2, Alfredo Ferro2, Alfredo Pulvirenti3.   

Abstract

A broad ecosystem of resources, databases, and systems to analyze cancer variations is present in the literature. These are a strategic element in the interpretation of NGS experiments. However, the intrinsic wealth of data from RNA-seq, ChipSeq, and DNA-seq can be fully exploited only with the proper skill and knowledge. In this chapter, we survey relevant literature concerning databases, annotators, and variant prioritization tools.
© 2022. Springer Nature Switzerland AG.

Entities:  

Keywords:  DNA alterations; DNA-Seq; Mutations; NGS; RNA-Seq; Variant annotation; Variant databases; Variant interpretation; Variant pathogenicity assessment; Variant prioritization

Mesh:

Substances:

Year:  2022        PMID: 35230689     DOI: 10.1007/978-3-030-91836-1_10

Source DB:  PubMed          Journal:  Adv Exp Med Biol        ISSN: 0065-2598            Impact factor:   2.622


  78 in total

Review 1.  Pharmacogenomics knowledge for personalized medicine.

Authors:  M Whirl-Carrillo; E M McDonagh; J M Hebert; L Gong; K Sangkuhl; C F Thorn; R B Altman; T E Klein
Journal:  Clin Pharmacol Ther       Date:  2012-10       Impact factor: 6.875

2.  PharmGKB: the Pharmacogenomics Knowledge Base.

Authors:  Caroline F Thorn; Teri E Klein; Russ B Altman
Journal:  Methods Mol Biol       Date:  2013

3.  ClinGen--the Clinical Genome Resource.

Authors:  Heidi L Rehm; Jonathan S Berg; Lisa D Brooks; Carlos D Bustamante; James P Evans; Melissa J Landrum; David H Ledbetter; Donna R Maglott; Christa Lese Martin; Robert L Nussbaum; Sharon E Plon; Erin M Ramos; Stephen T Sherry; Michael S Watson
Journal:  N Engl J Med       Date:  2015-05-27       Impact factor: 91.245

4.  The cBio cancer genomics portal: an open platform for exploring multidimensional cancer genomics data.

Authors:  Ethan Cerami; Jianjiong Gao; Ugur Dogrusoz; Benjamin E Gross; Selcuk Onur Sumer; Bülent Arman Aksoy; Anders Jacobsen; Caitlin J Byrne; Michael L Heuer; Erik Larsson; Yevgeniy Antipin; Boris Reva; Arthur P Goldberg; Chris Sander; Nikolaus Schultz
Journal:  Cancer Discov       Date:  2012-05       Impact factor: 39.397

5.  DrugBank: a comprehensive resource for in silico drug discovery and exploration.

Authors:  David S Wishart; Craig Knox; An Chi Guo; Savita Shrivastava; Murtaza Hassanali; Paul Stothard; Zhan Chang; Jennifer Woolsey
Journal:  Nucleic Acids Res       Date:  2006-01-01       Impact factor: 16.971

6.  CIViC is a community knowledgebase for expert crowdsourcing the clinical interpretation of variants in cancer.

Authors:  Malachi Griffith; Nicholas C Spies; Kilannin Krysiak; Joshua F McMichael; Adam C Coffman; Arpad M Danos; Benjamin J Ainscough; Cody A Ramirez; Damian T Rieke; Lynzey Kujan; Erica K Barnell; Alex H Wagner; Zachary L Skidmore; Amber Wollam; Connor J Liu; Martin R Jones; Rachel L Bilski; Robert Lesurf; Yan-Yang Feng; Nakul M Shah; Melika Bonakdar; Lee Trani; Matthew Matlock; Avinash Ramu; Katie M Campbell; Gregory C Spies; Aaron P Graubert; Karthik Gangavarapu; James M Eldred; David E Larson; Jason R Walker; Benjamin M Good; Chunlei Wu; Andrew I Su; Rodrigo Dienstmann; Adam A Margolin; David Tamborero; Nuria Lopez-Bigas; Steven J M Jones; Ron Bose; David H Spencer; Lukas D Wartman; Richard K Wilson; Elaine R Mardis; Obi L Griffith
Journal:  Nat Genet       Date:  2017-01-31       Impact factor: 38.330

7.  The ExAC browser: displaying reference data information from over 60 000 exomes.

Authors:  Konrad J Karczewski; Ben Weisburd; Brett Thomas; Matthew Solomonson; Douglas M Ruderfer; David Kavanagh; Tymor Hamamsy; Monkol Lek; Kaitlin E Samocha; Beryl B Cummings; Daniel Birnbaum; Mark J Daly; Daniel G MacArthur
Journal:  Nucleic Acids Res       Date:  2016-11-28       Impact factor: 16.971

8.  ClinVar: public archive of relationships among sequence variation and human phenotype.

Authors:  Melissa J Landrum; Jennifer M Lee; George R Riley; Wonhee Jang; Wendy S Rubinstein; Deanna M Church; Donna R Maglott
Journal:  Nucleic Acids Res       Date:  2013-11-14       Impact factor: 16.971

9.  Genenames.org: the HGNC and VGNC resources in 2019.

Authors:  Bryony Braschi; Paul Denny; Kristian Gray; Tamsin Jones; Ruth Seal; Susan Tweedie; Bethan Yates; Elspeth Bruford
Journal:  Nucleic Acids Res       Date:  2019-01-08       Impact factor: 16.971

10.  COSMIC: the Catalogue Of Somatic Mutations In Cancer.

Authors:  John G Tate; Sally Bamford; Harry C Jubb; Zbyslaw Sondka; David M Beare; Nidhi Bindal; Harry Boutselakis; Charlotte G Cole; Celestino Creatore; Elisabeth Dawson; Peter Fish; Bhavana Harsha; Charlie Hathaway; Steve C Jupe; Chai Yin Kok; Kate Noble; Laura Ponting; Christopher C Ramshaw; Claire E Rye; Helen E Speedy; Ray Stefancsik; Sam L Thompson; Shicai Wang; Sari Ward; Peter J Campbell; Simon A Forbes
Journal:  Nucleic Acids Res       Date:  2019-01-08       Impact factor: 16.971

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.