Literature DB >> 22174289

Interpretome: a freely available, modular, and secure personal genome interpretation engine.

Konrad J Karczewski1,2, Robert P Tirrell1, Pablo Cordero1, Nicholas P Tatonetti1,2, Joel T Dudley1, Keyan Salari2, Michael Snyder2, Russ B Altman2, Stuart K Kim2,3.   

Abstract

The decreasing cost of genotyping and genome sequencing has ushered in an era of genomic personalized medicine. More than 100,000 individuals have been genotyped by direct-to-consumer genetic testing services, which offer a glimpse into the interpretation and exploration of a personal genome. However, these interpretations, which require extensive manual curation, are subject to the preferences of the company and are not customizable by the individual. Academic institutions teaching personalized medicine, as well as genetic hobbyists, may prefer to customize their analysis and have full control over the content and method of interpretation. We present the Interpretome, a system for private genome interpretation, which contains all genotype information in client-side interpretation scripts, supported by server-side databases. We provide state-of-the-art analyses for teaching clinical implications of personal genomics, including disease risk assessment and pharmacogenomics. Additionally, we have implemented client-side algorithms for ancestry inference, demonstrating the power of these methods without excessive computation. Finally, the modular nature of the system allows for plugin capabilities for custom analyses. This system will allow for personal genome exploration without compromising privacy, facilitating hands-on courses in genomics and personalized medicine.

Entities:  

Mesh:

Year:  2012        PMID: 22174289      PMCID: PMC4809242     

Source DB:  PubMed          Journal:  Pac Symp Biocomput        ISSN: 2335-6928


  8 in total

1.  A human genome diversity cell line panel.

Authors:  Howard M Cann; Claudia de Toma; Lucien Cazes; Marie-Fernande Legrand; Valerie Morel; Laurence Piouffre; Julia Bodmer; Walter F Bodmer; Batsheva Bonne-Tamir; Anne Cambon-Thomsen; Zhu Chen; J Chu; Carlo Carcassi; Licinio Contu; Ruofu Du; Laurent Excoffier; G B Ferrara; Jonathan S Friedlaender; Helena Groot; David Gurwitz; Trefor Jenkins; Rene J Herrera; Xiaoyi Huang; Judith Kidd; Kenneth K Kidd; Andre Langaney; Alice A Lin; S Qasim Mehdi; Peter Parham; Alberto Piazza; Maria Pia Pistillo; Yaping Qian; Qunfang Shu; Jiujin Xu; S Zhu; James L Weber; Henry T Greely; Marcus W Feldman; Gilles Thomas; Jean Dausset; L Luca Cavalli-Sforza
Journal:  Science       Date:  2002-04-12       Impact factor: 47.728

2.  Clinical assessment incorporating a personal genome.

Authors:  Euan A Ashley; Atul J Butte; Matthew T Wheeler; Rong Chen; Teri E Klein; Frederick E Dewey; Joel T Dudley; Kelly E Ormond; Aleksandra Pavlovic; Alexander A Morgan; Dmitry Pushkarev; Norma F Neff; Louanne Hudgins; Li Gong; Laura M Hodges; Dorit S Berlin; Caroline F Thorn; Katrin Sangkuhl; Joan M Hebert; Mark Woon; Hersh Sagreiya; Ryan Whaley; Joshua W Knowles; Michael F Chou; Joseph V Thakuria; Abraham M Rosenbaum; Alexander Wait Zaranek; George M Church; Henry T Greely; Stephen R Quake; Russ B Altman
Journal:  Lancet       Date:  2010-05-01       Impact factor: 79.321

3.  Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.

Authors:  Lucia A Hindorff; Praveen Sethupathy; Heather A Junkins; Erin M Ramos; Jayashri P Mehta; Francis S Collins; Teri A Manolio
Journal:  Proc Natl Acad Sci U S A       Date:  2009-05-27       Impact factor: 11.205

4.  A draft sequence of the Neandertal genome.

Authors:  Johannes Krause; Adrian W Briggs; Tomislav Maricic; Udo Stenzel; Martin Kircher; Nick Patterson; Richard E Green; Heng Li; Weiwei Zhai; Markus Hsi-Yang Fritz; Nancy F Hansen; Eric Y Durand; Anna-Sapfo Malaspinas; Jeffrey D Jensen; Tomas Marques-Bonet; Can Alkan; Kay Prüfer; Matthias Meyer; Hernán A Burbano; Jeffrey M Good; Rigo Schultz; Ayinuer Aximu-Petri; Anne Butthof; Barbara Höber; Barbara Höffner; Madlen Siegemund; Antje Weihmann; Chad Nusbaum; Eric S Lander; Carsten Russ; Nathaniel Novod; Jason Affourtit; Michael Egholm; Christine Verna; Pavao Rudan; Dejana Brajkovic; Željko Kucan; Ivan Gušic; Vladimir B Doronichev; Liubov V Golovanova; Carles Lalueza-Fox; Marco de la Rasilla; Javier Fortea; Antonio Rosas; Ralf W Schmitz; Philip L F Johnson; Evan E Eichler; Daniel Falush; Ewan Birney; James C Mullikin; Montgomery Slatkin; Rasmus Nielsen; Janet Kelso; Michael Lachmann; David Reich; Svante Pääbo
Journal:  Science       Date:  2010-05-07       Impact factor: 47.728

5.  Likelihood ratios for genome medicine.

Authors:  Alexander A Morgan; Rong Chen; Atul J Butte
Journal:  Genome Med       Date:  2010-05-17       Impact factor: 11.117

6.  A method and server for predicting damaging missense mutations.

Authors:  Ivan A Adzhubei; Steffen Schmidt; Leonid Peshkin; Vasily E Ramensky; Anna Gerasimova; Peer Bork; Alexey S Kondrashov; Shamil R Sunyaev
Journal:  Nat Methods       Date:  2010-04       Impact factor: 28.547

7.  Genes mirror geography within Europe.

Authors:  John Novembre; Toby Johnson; Katarzyna Bryc; Zoltán Kutalik; Adam R Boyko; Adam Auton; Amit Indap; Karen S King; Sven Bergmann; Matthew R Nelson; Matthew Stephens; Carlos D Bustamante
Journal:  Nature       Date:  2008-08-31       Impact factor: 49.962

8.  Estimation of the warfarin dose with clinical and pharmacogenetic data.

Authors:  T E Klein; R B Altman; N Eriksson; B F Gage; S E Kimmel; M-T M Lee; N A Limdi; D Page; D M Roden; M J Wagner; M D Caldwell; J A Johnson
Journal:  N Engl J Med       Date:  2009-02-19       Impact factor: 91.245

  8 in total
  12 in total

1.  AVIA: an interactive web-server for annotation, visualization and impact analysis of genomic variations.

Authors:  Hue Vuong; Robert M Stephens; Natalia Volfovsky
Journal:  Bioinformatics       Date:  2013-11-09       Impact factor: 6.937

2.  Personal genomic information management and personalized medicine: challenges, current solutions, and roles of HIM professionals.

Authors:  Amal Alzu'bi; Leming Zhou; Valerie Watzlaf
Journal:  Perspect Health Inf Manag       Date:  2014-04-01

Review 3.  Third party interpretation of raw genetic data: an ethical exploration.

Authors:  Lauren Badalato; Louiza Kalokairinou; Pascal Borry
Journal:  Eur J Hum Genet       Date:  2017-08-23       Impact factor: 4.246

4.  "Bridge to the Literature"? Third-Party Genetic Interpretation Tools and the Views of Tool Developers.

Authors:  Sarah C Nelson; Stephanie M Fullerton
Journal:  J Genet Couns       Date:  2018-02-07       Impact factor: 2.537

5.  PATH-SCAN: a reporting tool for identifying clinically actionable variants.

Authors:  Roxana Daneshjou; Zachary Zappala; Kim Kukurba; Sean M Boyle; Kelly E Ormond; Teri E Klein; Michael Snyder; Carlos D Bustamante; Russ B Altman; Stephen B Montgomery
Journal:  Pac Symp Biocomput       Date:  2014

6.  The audacity of interpretation: Protecting patients or piling on?

Authors:  Misha Angrist
Journal:  Appl Transl Genom       Date:  2014-09-01

7.  Challenges of web-based personal genomic data sharing.

Authors:  Mahsa Shabani; Pascal Borry
Journal:  Life Sci Soc Policy       Date:  2015-03-27

8.  STORMSeq: an open-source, user-friendly pipeline for processing personal genomics data in the cloud.

Authors:  Konrad J Karczewski; Guy Haskin Fernald; Alicia R Martin; Michael Snyder; Nicholas P Tatonetti; Joel T Dudley
Journal:  PLoS One       Date:  2014-01-15       Impact factor: 3.240

9.  A probabilistic model to predict clinical phenotypic traits from genome sequencing.

Authors:  Yun-Ching Chen; Christopher Douville; Cheng Wang; Noushin Niknafs; Grace Yeo; Violeta Beleva-Guthrie; Hannah Carter; Peter D Stenson; David N Cooper; Biao Li; Sean Mooney; Rachel Karchin
Journal:  PLoS Comput Biol       Date:  2014-09-04       Impact factor: 4.475

10.  Virtual Pharmacist: A Platform for Pharmacogenomics.

Authors:  Ronghai Cheng; Ross Ka-Kit Leung; Yao Chen; Yidan Pan; Yin Tong; Zhoufang Li; Luwen Ning; Xuefeng B Ling; Jiankui He
Journal:  PLoS One       Date:  2015-10-23       Impact factor: 3.240

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