Literature DB >> 27153601

Canvas: versatile and scalable detection of copy number variants.

Eric Roller1, Sergii Ivakhno2, Steve Lee1, Thomas Royce3, Stephen Tanner1.   

Abstract

MOTIVATION: Versatile and efficient variant calling tools are needed to analyze large scale sequencing datasets. In particular, identification of copy number changes remains a challenging task due to their complexity, susceptibility to sequencing biases, variation in coverage data and dependence on genome-wide sample properties, such as tumor polyploidy or polyclonality in cancer samples.
RESULTS: We have developed a new tool, Canvas, for identification of copy number changes from diverse sequencing experiments including whole-genome matched tumor-normal and single-sample normal re-sequencing, as well as whole-exome matched and unmatched tumor-normal studies. In addition to variant calling, Canvas infers genome-wide parameters such as cancer ploidy, purity and heterogeneity. It provides fast and easy-to-run workflows that can scale to thousands of samples and can be easily incorporated into variant calling pipelines.
AVAILABILITY AND IMPLEMENTATION: Canvas is distributed under an open source license and can be downloaded from https://github.com/Illumina/canvas CONTACT: eroller@illumina.com SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.
© The Author 2016. Published by Oxford University Press. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

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Year:  2016        PMID: 27153601     DOI: 10.1093/bioinformatics/btw163

Source DB:  PubMed          Journal:  Bioinformatics        ISSN: 1367-4803            Impact factor:   6.937


  60 in total

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2.  A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data.

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Journal:  Am J Hum Genet       Date:  2018-01-04       Impact factor: 11.025

3.  Allele-Specific Biased Expression of the CNTN6 Gene in iPS Cell-Derived Neurons from a Patient with Intellectual Disability and 3p26.3 Microduplication Involving the CNTN6 Gene.

Authors:  Maria M Gridina; Natalia M Matveeva; Veniamin S Fishman; Aleksei G Menzorov; Helen A Kizilova; Nikolay A Beregovoy; Igor I Kovrigin; Inna E Pristyazhnyuk; Igor P Oscorbin; Maxim L Filipenko; Anna A Kashevarova; Nikolay A Skryabin; Tatyana V Nikitina; Elena A Sazhenova; Ludmila P Nazarenko; Igor N Lebedev; Oleg L Serov
Journal:  Mol Neurobiol       Date:  2018-01-11       Impact factor: 5.590

4.  Molecular landscape and clonal architecture of adult myelodysplastic/myeloproliferative neoplasms.

Authors:  Laura Palomo; Manja Meggendorfer; Stephan Hutter; Sven Twardziok; Vera Ademà; Irene Fuhrmann; Francisco Fuster-Tormo; Blanca Xicoy; Lurdes Zamora; Pamela Acha; Cassandra M Kerr; Wolfgang Kern; Jaroslaw P Maciejewski; Francesc Solé; Claudia Haferlach; Torsten Haferlach
Journal:  Blood       Date:  2020-10-15       Impact factor: 22.113

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Authors:  Lynelle K Jones; Rachel Lam; Karen K McKee; Maya Aleksandrova; John Dowling; Stephen I Alexander; Amali Mallawaarachchi; Denny L Cottle; Kieran M Short; Lynn Pais; Jeffery H Miner; Andrew J Mallett; Cas Simons; Hugh McCarthy; Peter D Yurchenco; Ian M Smyth
Journal:  Development       Date:  2020-06-22       Impact factor: 6.868

6.  Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter Disorders.

Authors:  Adeline Vanderver; Geneviève Bernard; Guy Helman; Omar Sherbini; Ryan Boeck; Jeffrey Cohn; Abigail Collins; Scott Demarest; Katherine Dobbins; Lisa Emrick; Jamie L Fraser; Diane Masser-Frye; Jean Hayward; Swati Karmarkar; Stephanie Keller; Samuel Mirrop; Wendy Mitchell; Sheel Pathak; Elliott Sherr; Keith van Haren; Erica Waters; Jenny L Wilson; Leah Zhorne; Raphael Schiffmann; Marjo S van der Knaap; Amy Pizzino; Holly Dubbs; Justine Shults; Cas Simons; Ryan J Taft
Journal:  Ann Neurol       Date:  2020-06-09       Impact factor: 10.422

7.  Evaluation of tools for identifying large copy number variations from ultra-low-coverage whole-genome sequencing data.

Authors:  Johannes Smolander; Sofia Khan; Kalaimathy Singaravelu; Leni Kauko; Riikka J Lund; Asta Laiho; Laura L Elo
Journal:  BMC Genomics       Date:  2021-05-17       Impact factor: 3.969

8.  Copy Number Loss of 17q22 Is Associated with Enzalutamide Resistance and Poor Prognosis in Metastatic Castration-Resistant Prostate Cancer.

Authors:  Xiangnan Guan; Duanchen Sun; Eric Lu; Joshua A Urrutia; Robert Evan Reiter; Matthew Rettig; Christopher P Evans; Primo Lara; Martin Gleave; Tomasz M Beer; George V Thomas; Jiaoti Huang; Rahul R Aggarwal; David A Quigley; Adam Foye; William S Chen; Jack Youngren; Alana S Weinstein; Joshua M Stuart; Felix Y Feng; Eric J Small; Zheng Xia; Joshi J Alumkal
Journal:  Clin Cancer Res       Date:  2020-07-29       Impact factor: 12.531

9.  Genomic Hallmarks and Structural Variation in Metastatic Prostate Cancer.

Authors:  David A Quigley; Ha X Dang; Shuang G Zhao; Paul Lloyd; Rahul Aggarwal; Joshi J Alumkal; Adam Foye; Vishal Kothari; Marc D Perry; Adina M Bailey; Denise Playdle; Travis J Barnard; Li Zhang; Jin Zhang; Jack F Youngren; Marcin P Cieslik; Abhijit Parolia; Tomasz M Beer; George Thomas; Kim N Chi; Martin Gleave; Nathan A Lack; Amina Zoubeidi; Robert E Reiter; Matthew B Rettig; Owen Witte; Charles J Ryan; Lawrence Fong; Won Kim; Terence Friedlander; Jonathan Chou; Haolong Li; Rajdeep Das; Hui Li; Ruhollah Moussavi-Baygi; Hani Goodarzi; Luke A Gilbert; Primo N Lara; Christopher P Evans; Theodore C Goldstein; Joshua M Stuart; Scott A Tomlins; Daniel E Spratt; R Keira Cheetham; Donavan T Cheng; Kyle Farh; Julian S Gehring; Jörg Hakenberg; Arnold Liao; Philip G Febbo; John Shon; Brad Sickler; Serafim Batzoglou; Karen E Knudsen; Housheng H He; Jiaoti Huang; Alexander W Wyatt; Scott M Dehm; Alan Ashworth; Arul M Chinnaiyan; Christopher A Maher; Eric J Small; Felix Y Feng
Journal:  Cell       Date:  2018-07-19       Impact factor: 41.582

10.  Biallelic Pathogenic GFRA1 Variants Cause Autosomal Recessive Bilateral Renal Agenesis.

Authors:  Veronica Arora; Suliman Khan; Ayman W. El-Hattab; Ratna Dua Puri; Maria Eugenia Rocha; Rijad Merdzanic; Omid Paknia; Christian Beetz; Arndt Rolfs; Aida M Bertoli-Avella; Peter Bauer; Ishwar C Verma
Journal:  J Am Soc Nephrol       Date:  2020-10-05       Impact factor: 10.121

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