Literature DB >> 21540879

The case for locus-specific databases.

Mark E Samuels1, Guy A Rouleau.   

Abstract

Locus-specific databases are the most useful repositories of the sequence information underlying medical genetic conditions and, for this reason, they need our continued support.

Mesh：

Year:  2011        PMID： 21540879     DOI： 10.1038/nrg3011

Source DB:  PubMed          Journal:  Nat Rev Genet        ISSN： 1471-0056            Impact factor:   53.242


  7 in total

1.  MutaDATABASE: a centralized and standardized DNA variation database.

Authors:  Sherri Bale; Martijn Devisscher; Wim Van Criekinge; Heidi L Rehm; Frederik Decouttere; Robert Nussbaum; Johan T Den Dunnen; Patrick Willems
Journal:  Nat Biotechnol       Date:  2011-02       Impact factor: 54.908

2.  LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach.

Authors:  Ivo F A C Fokkema; Johan T den Dunnen; Peter E M Taschner
Journal:  Hum Mutat       Date:  2005-08       Impact factor: 4.878

Review 3.  Revisiting Mendelian disorders through exome sequencing.

Authors:  Chee-Seng Ku; Nasheen Naidoo; Yudi Pawitan
Journal:  Hum Genet       Date:  2011-02-18       Impact factor: 4.132

Review 4.  General mutation databases: analysis and review.

Authors:  R A George; T D Smith; S Callaghan; L Hardman; C Pierides; O Horaitis; M A Wouters; R G H Cotton
Journal:  J Med Genet       Date:  2007-09-24       Impact factor: 6.318

5.  The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalized genomics.

Authors:  Peter D Stenson; Edward V Ball; Katy Howells; Andrew D Phillips; Matthew Mort; David N Cooper
Journal:  Hum Genomics       Date:  2009-12       Impact factor: 4.639

6.  McKusick's Online Mendelian Inheritance in Man (OMIM).

Authors:  Joanna Amberger; Carol A Bocchini; Alan F Scott; Ada Hamosh
Journal:  Nucleic Acids Res       Date:  2008-10-08       Impact factor: 16.971

7.  HGVbaseG2P: a central genetic association database.

Authors:  Gudmundur A Thorisson; Owen Lancaster; Robert C Free; Robert K Hastings; Pallavi Sarmah; Debasis Dash; Samir K Brahmachari; Anthony J Brookes
Journal:  Nucleic Acids Res       Date:  2008-10-23       Impact factor: 16.971
  7 in total
  9 in total

1.  Mutation (variation) databases and registries: a rationale for coordination of efforts.

Authors:  Arleen D Auerbach; John Burn; Jean-Jacques Cassiman; Mireille Claustres; Richard G H Cotton; Garry Cutting; Johan T den Dunnen; Mona El-Ruby; Aida Falcon Vargas; Marc S Greenblatt; Finlay Macrae; Yoichi Matsubara; David L Rimoin; Mauno Vihinen; Christine Van Broeckhoven
Journal:  Nat Rev Genet       Date:  2011-10-25       Impact factor: 53.242

2.  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

3.  Consensus: a framework for evaluation of uncertain gene variants in laboratory test reporting.

Authors:  David K Crockett; Perry G Ridge; Andrew R Wilson; Elaine Lyon; Marc S Williams; Scott P Narus; Julio C Facelli; Joyce A Mitchell
Journal:  Genome Med       Date:  2012-05-28       Impact factor: 11.117

Review 4.  Settling the score: variant prioritization and Mendelian disease.

Authors:  Karen Eilbeck; Aaron Quinlan; Mark Yandell
Journal:  Nat Rev Genet       Date:  2017-08-14       Impact factor: 53.242

5.  How genetic variant libraries effectively extend gene testing patents: implications for intellectual property and good clinical care.

Authors:  Sean McElligott; Robert I Field; Mirar Bristol-Demeter; Susan M Domchek; David A Asch
Journal:  J Clin Oncol       Date:  2012-07-16       Impact factor: 44.544

6.  Management of incidental findings in clinical genomic sequencing.

Authors:  Joel B Krier; Robert C Green
Journal:  Curr Protoc Hum Genet       Date:  2013

7.  Mutations in the pre-replication complex cause Meier-Gorlin syndrome.

Authors:  Louise S Bicknell; Ernie M H F Bongers; Andrea Leitch; Stephen Brown; Jeroen Schoots; Margaret E Harley; Salim Aftimos; Jumana Y Al-Aama; Michael Bober; Paul A J Brown; Hans van Bokhoven; John Dean; Alaa Y Edrees; Murray Feingold; Alan Fryer; Lies H Hoefsloot; Nikolaus Kau; Nine V A M Knoers; James Mackenzie; John M Opitz; Pierre Sarda; Alison Ross; I Karen Temple; Annick Toutain; Carol A Wise; Michael Wright; Andrew P Jackson
Journal:  Nat Genet       Date:  2011-02-27       Impact factor: 38.330

8.  Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.

Authors:  Patrick R Sosnay; Karen R Siklosi; Fredrick Van Goor; Kyle Kaniecki; Haihui Yu; Neeraj Sharma; Anabela S Ramalho; Margarida D Amaral; Ruslan Dorfman; Julian Zielenski; David L Masica; Rachel Karchin; Linda Millen; Philip J Thomas; George P Patrinos; Mary Corey; Michelle H Lewis; Johanna M Rommens; Carlo Castellani; Christopher M Penland; Garry R Cutting
Journal:  Nat Genet       Date:  2013-08-25       Impact factor: 38.330

9.  Hybrid curation of gene-mutation relations combining automated extraction and crowdsourcing.

Authors:  John D Burger; Emily Doughty; Ritu Khare; Chih-Hsuan Wei; Rajashree Mishra; John Aberdeen; David Tresner-Kirsch; Ben Wellner; Maricel G Kann; Zhiyong Lu; Lynette Hirschman
Journal:  Database (Oxford)       Date:  2014-09-22       Impact factor: 3.451
  9 in total

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