Literature DB >> 20428090

Conventional wisdom.

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Abstract

Recent agreement on stable reference sequences for reporting human genetic variants now allows us to mandate the use of the allele naming conventions developed by the Human Genome Variation Society.

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Year:  2010        PMID： 20428090     DOI： 10.1038/ng0510-363

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


  1 in total

1.  Locus Reference Genomic sequences: an improved basis for describing human DNA variants.

Authors:  Raymond Dalgleish; Paul Flicek; Fiona Cunningham; Alex Astashyn; Raymond E Tully; Glenn Proctor; Yuan Chen; William M McLaren; Pontus Larsson; Brendan W Vaughan; Christophe Béroud; Glen Dobson; Heikki Lehväslaiho; Peter Em Taschner; Johan T den Dunnen; Andrew Devereau; Ewan Birney; Anthony J Brookes; Donna R Maglott
Journal:  Genome Med       Date:  2010-04-15       Impact factor: 11.117
  1 in total
  3 in total

1.  Opinion: Standardizing gene product nomenclature-a call to action.

Authors:  Kenji Fujiyoshi; Elspeth A Bruford; Pawel Mroz; Cynthe L Sims; Timothy J O'Leary; Anthony W I Lo; Neng Chen; Nimesh R Patel; Keyur Pravinchandra Patel; Barbara Seliger; Mingyang Song; Federico A Monzon; Alexis B Carter; Margaret L Gulley; Susan M Mockus; Thuy L Phung; Harriet Feilotter; Heather E Williams; Shuji Ogino
Journal:  Proc Natl Acad Sci U S A       Date:  2021-01-19       Impact factor: 12.779

2.  KRAS, NRAS, BRAF mutation comparison of endoscopic and surgically removed primary CRC paired samples: is endoscopy biopsy material adequate for molecular evaluation?

Authors:  Z Saridaki; X Saegart; V De Vriendt; D Hatzidaki; S Palmans; L De Smedt; G De Hertogh; S Tejpar
Journal:  Br J Cancer       Date:  2015-09-01       Impact factor: 7.640

Review 3.  The curation of genetic variants: difficulties and possible solutions.

Authors:  Kapil Raj Pandey; Narendra Maden; Barsha Poudel; Sailendra Pradhananga; Amit Kumar Sharma
Journal:  Genomics Proteomics Bioinformatics       Date:  2012-11-29       Impact factor: 7.691
  3 in total

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