Literature DB >> 25232173

Phenomics and the interpretation of personal genomes.

Slavé Petrovski1, David B Goldstein2.   

Abstract

In contemporary genomics research, phenotype-driven bioinformatics approaches hint at the potential of establishing a framework for quantifying phenotypic similarities among patients (Zemojtel et al., issue 252).
Copyright © 2014, American Association for the Advancement of Science.

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Mesh：

Year:  2014        PMID： 25232173     DOI： 10.1126/scitranslmed.3010272

Source DB:  PubMed          Journal:  Sci Transl Med        ISSN： 1946-6234            Impact factor:   17.956


  8 in total

Review 1.  Human genotype-phenotype databases: aims, challenges and opportunities.

Authors:  Anthony J Brookes; Peter N Robinson
Journal:  Nat Rev Genet       Date:  2015-11-10       Impact factor: 53.242

2.  The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease.

Authors:  Rachel B Ramoni; John J Mulvihill; David R Adams; Patrick Allard; Euan A Ashley; Jonathan A Bernstein; William A Gahl; Rizwan Hamid; Joseph Loscalzo; Alexa T McCray; Vandana Shashi; Cynthia J Tifft; Anastasia L Wise
Journal:  Am J Hum Genet       Date:  2017-02-02       Impact factor: 11.025

3.  Next-generation diagnostics and disease-gene discovery with the Exomiser.

Authors:  Damian Smedley; Julius O B Jacobsen; Marten Jäger; Sebastian Köhler; Manuel Holtgrewe; Max Schubach; Enrico Siragusa; Tomasz Zemojtel; Orion J Buske; Nicole L Washington; William P Bone; Melissa A Haendel; Peter N Robinson
Journal:  Nat Protoc       Date:  2015-11-12       Impact factor: 13.491

Review 4.  Epidermal growth factor receptor immunohistochemistry: new opportunities in metastatic colorectal cancer.

Authors:  Ryan A Hutchinson; Richard A Adams; Darragh G McArt; Manuel Salto-Tellez; Bharat Jasani; Peter W Hamilton
Journal:  J Transl Med       Date:  2015-07-07       Impact factor: 5.531

5.  The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease.

Authors:  Tudor Groza; Sebastian Köhler; Dawid Moldenhauer; Nicole Vasilevsky; Gareth Baynam; Tomasz Zemojtel; Lynn Marie Schriml; Warren Alden Kibbe; Paul N Schofield; Tim Beck; Drashtti Vasant; Anthony J Brookes; Andreas Zankl; Nicole L Washington; Christopher J Mungall; Suzanna E Lewis; Melissa A Haendel; Helen Parkinson; Peter N Robinson
Journal:  Am J Hum Genet       Date:  2015-06-25       Impact factor: 11.025

6.  PathoPhenoDB, linking human pathogens to their phenotypes in support of infectious disease research.

Authors:  Şenay Kafkas; Marwa Abdelhakim; Yasmeen Hashish; Maxat Kulmanov; Marwa Abdellatif; Paul N Schofield; Robert Hoehndorf
Journal:  Sci Data       Date:  2019-06-03       Impact factor: 6.444

7.  Capturing phenotypes for precision medicine.

Authors:  Peter N Robinson; Christopher J Mungall; Melissa Haendel
Journal:  Cold Spring Harb Mol Case Stud       Date:  2015-10

8.  An online tool for measuring and visualizing phenotype similarities using HPO.

Authors:  Jiajie Peng; Hansheng Xue; Weiwei Hui; Junya Lu; Bolin Chen; Qinghua Jiang; Xuequn Shang; Yadong Wang
Journal:  BMC Genomics       Date:  2018-08-13       Impact factor: 3.969
  8 in total

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