Literature DB >> 17392794

A database of locus-specific databases.

Ourania Horaitis, C Conover Talbot, Manyphong Phommarinh, Kate M Phillips, Richard G H Cotton.   

Abstract

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Year:  2007        PMID： 17392794     DOI： 10.1038/ng0407-425

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


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  25 in total

1.  A database and API for variation, dense genotyping and resequencing data.

Authors:  Daniel Rios; William M McLaren; Yuan Chen; Ewan Birney; Arne Stabenau; Paul Flicek; Fiona Cunningham
Journal:  BMC Bioinformatics       Date:  2010-05-11       Impact factor: 3.169

2.  An examination of the OMIM database for associating mutation to a consensus reference sequence.

Authors:  Zuofeng Li; Beili Ying; Xingnan Liu; Xiaoyan Zhang; Hong Yu
Journal:  Protein Cell       Date:  2012-04-04       Impact factor: 14.870

3.  Reporting of Genetic Variants by Diagnostic Laboratories and other Centres.

Authors:  John-Paul Plazzer; Johan T den Dunnen; Timothy Smith; Finlay Macrae; Richard G Cotton
Journal:  Clin Biochem Rev       Date:  2012-02

Review 4.  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

5.  PharmGKB: a logical home for knowledge relating genotype to drug response phenotype.

Authors:  Russ B Altman
Journal:  Nat Genet       Date:  2007-04       Impact factor: 38.330

6.  Recommendations for locus-specific databases and their curation.

Authors:  R G H Cotton; A D Auerbach; J S Beckmann; O O Blumenfeld; A J Brookes; A F Brown; P Carrera; D W Cox; B Gottlieb; M S Greenblatt; P Hilbert; H Lehvaslaiho; P Liang; S Marsh; D W Nebert; S Povey; S Rossetti; C R Scriver; M Summar; D R Tolan; I C Verma; M Vihinen; J T den Dunnen
Journal:  Hum Mutat       Date:  2008-01       Impact factor: 4.878

Review 7.  Genotype-phenotype databases: challenges and solutions for the post-genomic era.

Authors:  Gudmundur A Thorisson; Juha Muilu; Anthony J Brookes
Journal:  Nat Rev Genet       Date:  2009-01       Impact factor: 53.242

8.  InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines.

Authors:  Quan Li; Kai Wang
Journal:  Am J Hum Genet       Date:  2017-01-26       Impact factor: 11.025

9.  TP53 mutations, tetraploidy and homologous recombination repair defects in early stage high-grade serous ovarian cancer.

Authors:  Jeremy Chien; Hugues Sicotte; Jian-Bing Fan; Sean Humphray; Julie M Cunningham; Kimberly R Kalli; Ann L Oberg; Steven N Hart; Ying Li; Jaime I Davila; Saurabh Baheti; Chen Wang; Sabine Dietmann; Elizabeth J Atkinson; Yan W Asmann; Debra A Bell; Takayo Ota; Yaman Tarabishy; Rui Kuang; Marina Bibikova; R Keira Cheetham; Russell J Grocock; Elizabeth M Swisher; John Peden; David Bentley; Jean-Pierre A Kocher; Scott H Kaufmann; Lynn C Hartmann; Viji Shridhar; Ellen L Goode
Journal:  Nucleic Acids Res       Date:  2015-04-27       Impact factor: 16.971

10.  COMUS: Clinician-Oriented locus-specific MUtation detection and deposition System.

Authors:  Sungwoong Jho; Byoung-Chul Kim; Ho Ghang; Ji-Han Kim; Daeui Park; Hak-Min Kim; Soo-young Jung; Ki-young Yoo; Hee-Jin Kim; Sunghoon Lee; Jong Bhak
Journal:  BMC Genomics       Date:  2009-12-03       Impact factor: 3.969
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