Literature DB >> 29092935

CRAVAT 4: Cancer-Related Analysis of Variants Toolkit.

David L Masica1,2, Christopher Douville1,2, Collin Tokheim1,2, Rohit Bhattacharya2,3, RyangGuk Kim4, Kyle Moad4, Michael C Ryan4, Rachel Karchin5,2,6.   

Abstract

Cancer sequencing studies are increasingly comprehensive and well powered, returning long lists of somatic mutations that can be difficult to sort and interpret. Diligent analysis and quality control can require multiple computational tools of distinct utility and producing disparate output, creating additional challenges for the investigator. The Cancer-Related Analysis of Variants Toolkit (CRAVAT) is an evolving suite of informatics tools for mutation interpretation that includes mutation mapping and quality control, impact prediction and extensive annotation, gene- and mutation-level interpretation, including joint prioritization of all nonsilent mutation consequence types, and structural and mechanistic visualization. Results from CRAVAT submissions are explored in an interactive, user-friendly web environment with dynamic filtering and sorting designed to highlight the most informative mutations, even in the context of very large studies. CRAVAT can be run on a public web portal, in the cloud, or downloaded for local use, and is easily integrated with other methods for cancer omics analysis. Cancer Res; 77(21); e35-38. ©2017 AACR. ©2017 American Association for Cancer Research.

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Year:  2017        PMID: 29092935      PMCID: PMC5850945          DOI: 10.1158/0008-5472.CAN-17-0338

Source DB:  PubMed          Journal:  Cancer Res        ISSN: 0008-5472            Impact factor:   12.701


  14 in total

1.  Exome-Scale Discovery of Hotspot Mutation Regions in Human Cancer Using 3D Protein Structure.

Authors:  Collin Tokheim; Rohit Bhattacharya; Noushin Niknafs; Derek M Gygax; Rick Kim; Michael Ryan; David L Masica; Rachel Karchin
Journal:  Cancer Res       Date:  2016-04-28       Impact factor: 12.701

2.  NDEx, the Network Data Exchange.

Authors:  Dexter Pratt; Jing Chen; David Welker; Ricardo Rivas; Rudolf Pillich; Vladimir Rynkov; Keiichiro Ono; Carol Miello; Lyndon Hicks; Sandor Szalma; Aleksandar Stojmirovic; Radu Dobrin; Michael Braxenthaler; Jan Kuentzer; Barry Demchak; Trey Ideker
Journal:  Cell Syst       Date:  2015-10-28       Impact factor: 10.304

3.  De novo transcript sequence reconstruction from RNA-seq using the Trinity platform for reference generation and analysis.

Authors:  Brian J Haas; Alexie Papanicolaou; Moran Yassour; Manfred Grabherr; Philip D Blood; Joshua Bowden; Matthew Brian Couger; David Eccles; Bo Li; Matthias Lieber; Matthew D MacManes; Michael Ott; Joshua Orvis; Nathalie Pochet; Francesco Strozzi; Nathan Weeks; Rick Westerman; Thomas William; Colin N Dewey; Robert Henschel; Richard D LeDuc; Nir Friedman; Aviv Regev
Journal:  Nat Protoc       Date:  2013-07-11       Impact factor: 13.491

4.  COSMIC: exploring the world's knowledge of somatic mutations in human cancer.

Authors:  Simon A Forbes; David Beare; Prasad Gunasekaran; Kenric Leung; Nidhi Bindal; Harry Boutselakis; Minjie Ding; Sally Bamford; Charlotte Cole; Sari Ward; Chai Yin Kok; Mingming Jia; Tisham De; Jon W Teague; Michael R Stratton; Ultan McDermott; Peter J Campbell
Journal:  Nucleic Acids Res       Date:  2014-10-29       Impact factor: 16.971

5.  Analysis of protein-coding genetic variation in 60,706 humans.

Authors:  Monkol Lek; Konrad J Karczewski; Eric V Minikel; Kaitlin E Samocha; Eric Banks; Timothy Fennell; Anne H O'Donnell-Luria; James S Ware; Andrew J Hill; Beryl B Cummings; Taru Tukiainen; Daniel P Birnbaum; Jack A Kosmicki; Laramie E Duncan; Karol Estrada; Fengmei Zhao; James Zou; Emma Pierce-Hoffman; Joanne Berghout; David N Cooper; Nicole Deflaux; Mark DePristo; Ron Do; Jason Flannick; Menachem Fromer; Laura Gauthier; Jackie Goldstein; Namrata Gupta; Daniel Howrigan; Adam Kiezun; Mitja I Kurki; Ami Levy Moonshine; Pradeep Natarajan; Lorena Orozco; Gina M Peloso; Ryan Poplin; Manuel A Rivas; Valentin Ruano-Rubio; Samuel A Rose; Douglas M Ruderfer; Khalid Shakir; Peter D Stenson; Christine Stevens; Brett P Thomas; Grace Tiao; Maria T Tusie-Luna; Ben Weisburd; Hong-Hee Won; Dongmei Yu; David M Altshuler; Diego Ardissino; Michael Boehnke; John Danesh; Stacey Donnelly; Roberto Elosua; Jose C Florez; Stacey B Gabriel; Gad Getz; Stephen J Glatt; Christina M Hultman; Sekar Kathiresan; Markku Laakso; Steven McCarroll; Mark I McCarthy; Dermot McGovern; Ruth McPherson; Benjamin M Neale; Aarno Palotie; Shaun M Purcell; Danish Saleheen; Jeremiah M Scharf; Pamela Sklar; Patrick F Sullivan; Jaakko Tuomilehto; Ming T Tsuang; Hugh C Watkins; James G Wilson; Mark J Daly; Daniel G MacArthur
Journal:  Nature       Date:  2016-08-18       Impact factor: 49.962

6.  An integrated map of genetic variation from 1,092 human genomes.

Authors:  Goncalo R Abecasis; Adam Auton; Lisa D Brooks; Mark A DePristo; Richard M Durbin; Robert E Handsaker; Hyun Min Kang; Gabor T Marth; Gil A McVean
Journal:  Nature       Date:  2012-11-01       Impact factor: 49.962

7.  Identifying Mendelian disease genes with the variant effect scoring tool.

Authors:  Hannah Carter; Christopher Douville; Peter D Stenson; David N Cooper; Rachel Karchin
Journal:  BMC Genomics       Date:  2013-05-28       Impact factor: 3.969

8.  Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants.

Authors:  Wenqing Fu; Timothy D O'Connor; Goo Jun; Hyun Min Kang; Goncalo Abecasis; Suzanne M Leal; Stacey Gabriel; Mark J Rieder; David Altshuler; Jay Shendure; Deborah A Nickerson; Michael J Bamshad; Joshua M Akey
Journal:  Nature       Date:  2012-11-28       Impact factor: 49.962

9.  The Human Gene Mutation Database: 2008 update.

Authors:  Peter D Stenson; Matthew Mort; Edward V Ball; Katy Howells; Andrew D Phillips; Nick St Thomas; David N Cooper
Journal:  Genome Med       Date:  2009-01-22       Impact factor: 11.117

10.  Assessing the Pathogenicity of Insertion and Deletion Variants with the Variant Effect Scoring Tool (VEST-Indel).

Authors:  Christopher Douville; David L Masica; Peter D Stenson; David N Cooper; Derek M Gygax; Rick Kim; Michael Ryan; Rachel Karchin
Journal:  Hum Mutat       Date:  2015-10-26       Impact factor: 4.878

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  23 in total

1.  Multimodal genomic features predict outcome of immune checkpoint blockade in non-small-cell lung cancer.

Authors:  Valsamo Anagnostou; Noushin Niknafs; Kristen Marrone; Daniel C Bruhm; James R White; Jarushka Naidoo; Karlijn Hummelink; Kim Monkhorst; Ferry Lalezari; Mara Lanis; Samuel Rosner; Joshua E Reuss; Kellie N Smith; Vilmos Adleff; Kristen Rodgers; Zineb Belcaid; Lamia Rhymee; Benjamin Levy; Josephine Feliciano; Christine L Hann; David S Ettinger; Christos Georgiades; Franco Verde; Peter Illei; Qing Kay Li; Alexander S Baras; Edward Gabrielson; Malcolm V Brock; Rachel Karchin; Drew M Pardoll; Stephen B Baylin; Julie R Brahmer; Robert B Scharpf; Patrick M Forde; Victor E Velculescu
Journal:  Nat Cancer       Date:  2020-01-13

2.  RAS internal tandem duplication disrupts GTPase-activating protein (GAP) binding to activate oncogenic signaling.

Authors:  Andrew C Nelson; Thomas J Turbyville; Srisathiyanarayanan Dharmaiah; Megan Rigby; Rendong Yang; Ting-You Wang; John Columbus; Robert Stephens; Troy Taylor; Drew Sciacca; Getiria Onsongo; Anne Sarver; Subbaya Subramanian; Dwight V Nissley; Dhirendra K Simanshu; Emil Lou
Journal:  J Biol Chem       Date:  2020-05-11       Impact factor: 5.157

Review 3.  An analysis of genetic heterogeneity in untreated cancers.

Authors:  Johannes G Reiter; Marina Baretti; Jeffrey M Gerold; Alvin P Makohon-Moore; Adil Daud; Christine A Iacobuzio-Donahue; Nilofer S Azad; Kenneth W Kinzler; Martin A Nowak; Bert Vogelstein
Journal:  Nat Rev Cancer       Date:  2019-08-27       Impact factor: 60.716

4.  Systematic characterization of mutations altering protein degradation in human cancers.

Authors:  Collin Tokheim; Xiaoqing Wang; Richard T Timms; Boning Zhang; Elijah L Mena; Binbin Wang; Cynthia Chen; Jun Ge; Jun Chu; Wubing Zhang; Stephen J Elledge; Myles Brown; X Shirley Liu
Journal:  Mol Cell       Date:  2021-02-09       Impact factor: 19.328

5.  PhyreRisk: A Dynamic Web Application to Bridge Genomics, Proteomics and 3D Structural Data to Guide Interpretation of Human Genetic Variants.

Authors:  Tochukwu C Ofoegbu; Alessia David; Lawrence A Kelley; Stefans Mezulis; Suhail A Islam; Sophia F Mersmann; Léonie Strömich; Ilya A Vakser; Richard S Houlston; Michael J E Sternberg
Journal:  J Mol Biol       Date:  2019-05-07       Impact factor: 5.469

6.  Germline variants associated with leukocyte genes predict tumor recurrence in breast cancer patients.

Authors:  Jean-Sébastien Milanese; Chabane Tibiche; Jinfeng Zou; Zhigang Meng; Andre Nantel; Simon Drouin; Richard Marcotte; Edwin Wang
Journal:  NPJ Precis Oncol       Date:  2019-11-01

7.  Pediatric Cancer Variant Pathogenicity Information Exchange (PeCanPIE): a cloud-based platform for curating and classifying germline variants.

Authors:  Michael N Edmonson; Aman N Patel; Dale J Hedges; Zhaoming Wang; Evadnie Rampersaud; Chimene A Kesserwan; Xin Zhou; Yanling Liu; Scott Newman; Michael C Rusch; Clay L McLeod; Mark R Wilkinson; Stephen V Rice; Thierry Soussi; J Paul Taylor; Michael Benatar; Jared B Becksfort; Kim E Nichols; Leslie L Robison; James R Downing; Jinghui Zhang
Journal:  Genome Res       Date:  2019-08-22       Impact factor: 9.043

8.  Exome sequencing identifies de novo splicing variant in XRCC6 in sporadic case of autism.

Authors:  Calvin P Sjaarda; Shalandra Wood; Amy J M McNaughton; Sarah Taylor; Melissa L Hudson; Xudong Liu; Andrea Guerin; Muhammad Ayub
Journal:  J Hum Genet       Date:  2019-12-12       Impact factor: 3.172

Review 9.  Prediction of driver variants in the cancer genome via machine learning methodologies.

Authors:  Mark F Rogers; Tom R Gaunt; Colin Campbell
Journal:  Brief Bioinform       Date:  2021-07-20       Impact factor: 11.622

10.  Integrated Informatics Analysis of Cancer-Related Variants.

Authors:  Kymberleigh A Pagel; Rick Kim; Kyle Moad; Ben Busby; Lily Zheng; Collin Tokheim; Michael Ryan; Rachel Karchin
Journal:  JCO Clin Cancer Inform       Date:  2020-03
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