Human Variome Project Quality Assessment Criteria for Variation Databases-Reference-Cited by-同舟云学术

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Human Variome Project Quality Assessment Criteria for Variation Databases

Published:2016-03-21 Issue:6 Volume:37 Page:549-558
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Vihinen Mauno¹,Hancock John M.²,Maglott Donna R.³,Landrum Melissa J.³,Schaafsma Gerard C. P.¹,Taschner Peter⁴⁵

Affiliation:

1. Department of Experimental Medical Science; Lund University; BMC B13 SE-22184 Lund Sweden

2. The Genome Analysis Centre; Norwich Research Park Norwich NR4 7UH UK

3. National Center for Biotechnology Information; National Institutes of Health; Bethesda Maryland 20892

4. Generade Center of Expertise Genomics and University of Applied Sciences Leiden; Leiden The Netherlands

5. Department of Human Genetics; Leiden University Medical Center; Leiden The Netherlands

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22976/fullpdf

Reference43 articles.

1. College of American Pathologists' laboratory standards for next-generation sequencing clinical tests;Aziz;Arch Pathol Lab Med,2015

2. An approach to describing and analysing bulk biological annotation quality: a case study using UniProtKB;Bell;Bioinformatics,2012

3. UMD (Universal mutation database): a generic software to build and analyze locus-specific databases;Beroud;Hum Mutat,2000

4. The essentials of a database quality process;Blakeslee;Data Sci J,2003

5. Curating gene variant databases (LSDBs): toward a universal standard;Celli;Hum Mutat,2012

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2. Global Globin Network and adopting genomic variant database requirements for thalassemia;Database;2024

3. BTKbase, Bruton Tyrosine Kinase Variant Database in X-Linked Agammaglobulinemia: Looking Back and Ahead;Human Mutation;2023-07-31

4. Evaluation of the influence of single-nucleotide polymorphisms of vitamin D receptor (rs2228570), BDNF (rs6265), and NMDA (rs4880213) genes on gene expression in different tissues;INTERNATIONAL JOURNAL OF ENDOCRINOLOGY (Ukraine);2023-04-29

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