Literature DB >> 10612814

Progress of the HUGO mutation database initiative: a brief introduction to the human mutation MDI special issue.

R G Cotton1.   

Abstract

Entities:  

Mesh:

Year:  2000        PMID: 10612814     DOI: 10.1002/(SICI)1098-1004(200001)15:1<4::AID-HUMU3>3.0.CO;2-T

Source DB:  PubMed          Journal:  Hum Mutat        ISSN: 1059-7794            Impact factor:   4.878


× No keyword cloud information.
  6 in total

1.  A survey of locus-specific database curation. Human Genome Variation Society.

Authors:  Richard G H Cotton; Kate Phillips; Ourania Horaitis
Journal:  J Med Genet       Date:  2007-04       Impact factor: 6.318

2.  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

3.  Preserving sequence annotations across reference sequences.

Authors:  Zuotian Tatum; Marco Roos; Andrew P Gibson; Peter Em Taschner; Mark Thompson; Erik A Schultes; Jeroen Fj Laros
Journal:  J Biomed Semantics       Date:  2014-06-03

Review 4.  DNA variant databases improve test accuracy and phenotype prediction in Alport syndrome.

Authors:  Judy Savige; Elisabet Ars; Richard G H Cotton; David Crockett; Hayat Dagher; Constantinos Deltas; Jie Ding; Frances Flinter; Genevieve Pont-Kingdon; Nizar Smaoui; Roser Torra; Helen Storey
Journal:  Pediatr Nephrol       Date:  2013-05-30       Impact factor: 3.714

5.  Uncovering a multitude of human glucocorticoid receptor variants: an expansive survey of a single gene.

Authors:  Stacey M Leventhal; Debora Lim; Tajia L Green; Anna E Cantrell; Kiho Cho; David G Greenhalgh
Journal:  BMC Genet       Date:  2019-02-08       Impact factor: 2.797

6.  VariVis: a visualisation toolkit for variation databases.

Authors:  Timothy D Smith; Richard G H Cotton
Journal:  BMC Bioinformatics       Date:  2008-04-23       Impact factor: 3.169

  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.