Literature DB >> 29106441

Orchid: a novel management, annotation and machine learning framework for analyzing cancer mutations.

Clinton L Cario1, John S Witte1.   

Abstract

Motivation: As whole-genome tumor sequence and biological annotation datasets grow in size, number and content, there is an increasing basic science and clinical need for efficient and accurate data management and analysis software. With the emergence of increasingly sophisticated data stores, execution environments and machine learning algorithms, there is also a need for the integration of functionality across frameworks.
Results: We present orchid, a python based software package for the management, annotation and machine learning of cancer mutations. Building on technologies of parallel workflow execution, in-memory database storage and machine learning analytics, orchid efficiently handles millions of mutations and hundreds of features in an easy-to-use manner. We describe the implementation of orchid and demonstrate its ability to distinguish tissue of origin in 12 tumor types based on 339 features using a random forest classifier. Availability and implementation: Orchid and our annotated tumor mutation database are freely available at https://github.com/wittelab/orchid. Software is implemented in python 2.7, and makes use of MySQL or MemSQL databases. Groovy 2.4.5 is optionally required for parallel workflow execution. Contact: JWitte@ucsf.edu. Supplementary information: Supplementary data are available at Bioinformatics online.

Entities:  

Mesh:

Year:  2018        PMID: 29106441      PMCID: PMC5860353          DOI: 10.1093/bioinformatics/btx709

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


  32 in total

1.  KEGG: kyoto encyclopedia of genes and genomes.

Authors:  M Kanehisa; S Goto
Journal:  Nucleic Acids Res       Date:  2000-01-01       Impact factor: 16.971

2.  The microRNA Registry.

Authors:  Sam Griffiths-Jones
Journal:  Nucleic Acids Res       Date:  2004-01-01       Impact factor: 16.971

3.  Nextflow enables reproducible computational workflows.

Authors:  Paolo Di Tommaso; Maria Chatzou; Evan W Floden; Pablo Prieto Barja; Emilio Palumbo; Cedric Notredame
Journal:  Nat Biotechnol       Date:  2017-04-11       Impact factor: 54.908

4.  Gene set enrichment analysis: a knowledge-based approach for interpreting genome-wide expression profiles.

Authors:  Aravind Subramanian; Pablo Tamayo; Vamsi K Mootha; Sayan Mukherjee; Benjamin L Ebert; Michael A Gillette; Amanda Paulovich; Scott L Pomeroy; Todd R Golub; Eric S Lander; Jill P Mesirov
Journal:  Proc Natl Acad Sci U S A       Date:  2005-09-30       Impact factor: 11.205

Review 5.  Cancer of unknown primary site.

Authors:  Nicholas Pavlidis; George Pentheroudakis
Journal:  Lancet       Date:  2012-03-12       Impact factor: 79.321

6.  Cell-free DNA Comprises an In Vivo Nucleosome Footprint that Informs Its Tissues-Of-Origin.

Authors:  Matthew W Snyder; Martin Kircher; Andrew J Hill; Riza M Daza; Jay Shendure
Journal:  Cell       Date:  2016-01-14       Impact factor: 41.582

7.  TumorTracer: a method to identify the tissue of origin from the somatic mutations of a tumor specimen.

Authors:  Andrea Marion Marquard; Nicolai Juul Birkbak; Cecilia Engel Thomas; Francesco Favero; Marcin Krzystanek; Celine Lefebvre; Charles Ferté; Mariam Jamal-Hanjani; Gareth A Wilson; Seema Shafi; Charles Swanton; Fabrice André; Zoltan Szallasi; Aron Charles Eklund
Journal:  BMC Med Genomics       Date:  2015-10-01       Impact factor: 3.063

8.  Integrative analysis of 111 reference human epigenomes.

Authors:  Anshul Kundaje; Wouter Meuleman; Jason Ernst; Misha Bilenky; Angela Yen; Alireza Heravi-Moussavi; Pouya Kheradpour; Zhizhuo Zhang; Jianrong Wang; Michael J Ziller; Viren Amin; John W Whitaker; Matthew D Schultz; Lucas D Ward; Abhishek Sarkar; Gerald Quon; Richard S Sandstrom; Matthew L Eaton; Yi-Chieh Wu; Andreas R Pfenning; Xinchen Wang; Melina Claussnitzer; Yaping Liu; Cristian Coarfa; R Alan Harris; Noam Shoresh; Charles B Epstein; Elizabeta Gjoneska; Danny Leung; Wei Xie; R David Hawkins; Ryan Lister; Chibo Hong; Philippe Gascard; Andrew J Mungall; Richard Moore; Eric Chuah; Angela Tam; Theresa K Canfield; R Scott Hansen; Rajinder Kaul; Peter J Sabo; Mukul S Bansal; Annaick Carles; Jesse R Dixon; Kai-How Farh; Soheil Feizi; Rosa Karlic; Ah-Ram Kim; Ashwinikumar Kulkarni; Daofeng Li; Rebecca Lowdon; GiNell Elliott; Tim R Mercer; Shane J Neph; Vitor Onuchic; Paz Polak; Nisha Rajagopal; Pradipta Ray; Richard C Sallari; Kyle T Siebenthall; Nicholas A Sinnott-Armstrong; Michael Stevens; Robert E Thurman; Jie Wu; Bo Zhang; Xin Zhou; Arthur E Beaudet; Laurie A Boyer; Philip L De Jager; Peggy J Farnham; Susan J Fisher; David Haussler; Steven J M Jones; Wei Li; Marco A Marra; Michael T McManus; Shamil Sunyaev; James A Thomson; Thea D Tlsty; Li-Huei Tsai; Wei Wang; Robert A Waterland; Michael Q Zhang; Lisa H Chadwick; Bradley E Bernstein; Joseph F Costello; Joseph R Ecker; Martin Hirst; Alexander Meissner; Aleksandar Milosavljevic; Bing Ren; John A Stamatoyannopoulos; Ting Wang; Manolis Kellis
Journal:  Nature       Date:  2015-02-19       Impact factor: 69.504

9.  The accessible chromatin landscape of the human genome.

Authors:  Robert E Thurman; Eric Rynes; Richard Humbert; Jeff Vierstra; Matthew T Maurano; Eric Haugen; Nathan C Sheffield; Andrew B Stergachis; Hao Wang; Benjamin Vernot; Kavita Garg; Sam John; Richard Sandstrom; Daniel Bates; Lisa Boatman; Theresa K Canfield; Morgan Diegel; Douglas Dunn; Abigail K Ebersol; Tristan Frum; Erika Giste; Audra K Johnson; Ericka M Johnson; Tanya Kutyavin; Bryan Lajoie; Bum-Kyu Lee; Kristen Lee; Darin London; Dimitra Lotakis; Shane Neph; Fidencio Neri; Eric D Nguyen; Hongzhu Qu; Alex P Reynolds; Vaughn Roach; Alexias Safi; Minerva E Sanchez; Amartya Sanyal; Anthony Shafer; Jeremy M Simon; Lingyun Song; Shinny Vong; Molly Weaver; Yongqi Yan; Zhancheng Zhang; Zhuzhu Zhang; Boris Lenhard; Muneesh Tewari; Michael O Dorschner; R Scott Hansen; Patrick A Navas; George Stamatoyannopoulos; Vishwanath R Iyer; Jason D Lieb; Shamil R Sunyaev; Joshua M Akey; Peter J Sabo; Rajinder Kaul; Terrence S Furey; Job Dekker; Gregory E Crawford; John A Stamatoyannopoulos
Journal:  Nature       Date:  2012-09-06       Impact factor: 49.962

Review 10.  Identifying driver mutations in sequenced cancer genomes: computational approaches to enable precision medicine.

Authors:  Benjamin J Raphael; Jason R Dobson; Layla Oesper; Fabio Vandin
Journal:  Genome Med       Date:  2014-01-30       Impact factor: 11.117

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  7 in total

1.  YAMP: a containerized workflow enabling reproducibility in metagenomics research.

Authors:  Alessia Visconti; Tiphaine C Martin; Mario Falchi
Journal:  Gigascience       Date:  2018-07-01       Impact factor: 6.524

2.  Cancer Informatics in 2018: The Mysteries of the Cancer Genome Continue to Unravel, Deep Learning Approaches the Clinic, and Passive Data Collection Demonstrates Utility.

Authors:  Jeremy L Warner; Debra Patt
Journal:  Yearb Med Inform       Date:  2019-08-16

3.  Cancer systems epidemiology: Overcoming misconceptions and integrating systems approaches into cancer research.

Authors:  Patricia L Mabry; Nicolaas P Pronk; Christopher I Amos; John S Witte; Patrick T Wedlock; Sarah M Bartsch; Bruce Y Lee
Journal:  PLoS Med       Date:  2022-06-17       Impact factor: 11.613

4.  The Cancermuts software package for the prioritization of missense cancer variants: a case study of AMBRA1 in melanoma.

Authors:  Matteo Tiberti; Luca Di Leo; Mette Vixø Vistesen; Rikke Sofie Kuhre; Francesco Cecconi; Daniela De Zio; Elena Papaleo
Journal:  Cell Death Dis       Date:  2022-10-15       Impact factor: 9.685

5.  Current trends for customized biomedical software tools.

Authors:  Haseeb Ahmad Khan
Journal:  Bioinformation       Date:  2017-12-31

6.  A machine learning approach to optimizing cell-free DNA sequencing panels: with an application to prostate cancer.

Authors:  Clinton L Cario; Emmalyn Chen; Lancelote Leong; Nima C Emami; Karen Lopez; Imelda Tenggara; Jeffry P Simko; Terence W Friedlander; Patricia S Li; Pamela L Paris; Peter R Carroll; John S Witte
Journal:  BMC Cancer       Date:  2020-08-28       Impact factor: 4.430

Review 7.  Machine Learning Protocols in Early Cancer Detection Based on Liquid Biopsy: A Survey.

Authors:  Linjing Liu; Xingjian Chen; Olutomilayo Olayemi Petinrin; Weitong Zhang; Saifur Rahaman; Zhi-Ri Tang; Ka-Chun Wong
Journal:  Life (Basel)       Date:  2021-06-30
  7 in total

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