Mutation nomenclature in practice: Findings and recommendations from the cystic fibrosis external quality assessment scheme

Human Mutation

Volumn 32, Issue 11, 2011, Pages 1197-1203

  Berwouts, Sarah ^a   Morris, Michael A ^b   Girodon, Emmanuelle ^c   Schwarz, Martin ^d   Stuhrmann, Manfred ^e   Dequeker, Elisabeth ^a  

^a UNIVERSITY OF LEUVEN   (Belgium)

^b UNIVERSITY HOSPITAL   (Switzerland)

^c HENRI MONDOR HOSPITAL   (France)

^d ST MARY S HOSPITAL   (United Kingdom)

^e HANNOVER MEDICAL SCHOOL   (Germany)

Author keywords

Cystic fibrosis; External quality assessment; HGVS nomenclature; Mutation

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

ARTICLE; CYSTIC FIBROSIS; GENE MUTATION; GENE SEQUENCE; GENETIC DATABASE; GENETIC VARIABILITY; HGVS NOMENCLATURE; HUMAN; MUTATIONAL ANALYSIS; NOMENCLATURE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; QUALITY CONTROL;

CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; GENETIC TESTING; GENETIC VARIATION; GENOME, HUMAN; HUMANS; MUTATION; QUALITY CONTROL; SEQUENCE ANALYSIS, DNA; TERMINOLOGY AS TOPIC;

EID: 80054683942     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21569     Document Type: Article

References (11)

1. Antonarakis SE. 1998. Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group. Hum Mutat 11:1-3.
2. Bareil C, Theze C, Beroud C, Hamroun D, Guittard C, Rene C, Paulet D, Georges M, Claustres M. 2010. UMD-CFTR: a database dedicated to CF and CFTR-related disorders. Hum Mutat 31:1011-1019.
3. Dalgleish R, Flicek P, Cunningham F, Astashyn A, Tully RE, Proctor G, Chen Y, McLaren WM, Larsson P, Vaughan BW, Beroud C, Dobson G, Lehvaslaiho H, Taschner PE, den Dunnen JT, Devereau A, Birney E, Brookes AJ, Maglott DR. 2010. Locus Reference Genomic sequences: an improved basis for describing human DNA variants. Genome Med 24:1-7.
4. den Dunnen JT, Antonarakis SE. 2000. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 15:7-12.
5. den Dunnen JT, Antonarakis SE. 2001. Nomenclature for the description of human sequence variations. Hum Genet 109:121-124.
6. Dequeker E, Stuhrman M, Morris MA, Casals T, Castellani C, Claustres M, Cuppens H, Des Georges M, Ferec C, Macek M, Pignatti PF, Scheffer H, Schwartz M, Witt M, Schwarz M, Girodon E. 2009. Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders-updated European recommendations. Eur J Hum Genet 17:51-65.
7. Gulley ML, Braziel RM, Halling KC, Hsi ED, Kant JA, Nikiforova MN, Nowak JA, Ogino S, Oliveira A, Polesky HF, Silverman L, Tubbs RR, Van Deerlin VM, Vance GH, Versalovic J. 2007. Clinical laboratory reports in molecular pathology. Arch Pathol Lab Med 131:852-863.
8. Ogino S, Gulley ML, den Dunnen JT, Wilson RB. 2007. Standard mutation nomenclature in molecular diagnostics: practical and educational challenges. J Mol Diagn 9:1-6.
9. Schwarz M, Gardner A, Jenkins L, Norbury G, Renwick P, Robinson D. 2008. Testing Guidelines for molecular diagnosis of Cystic Fibrosis. UK: Clinical Molecular Genetics Society.
10. White JA, McAlpine PJ, Antonarakis S, Cann H, Eppig JT, Frazer K, Frezal J, Lancet D, Nahmias J, Pearson P, Peters J, Scott A, Scott H, Spurr N, Talbot C, Jr., Povey S. 1997. Guidelines for human gene nomenclature (1997). HUGO Nomenclature Committee. Genomics 45:468-471.
11. Wildeman M, van Ophuizen E, den Dunnen JT, Taschner PE. 2008. Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker. Hum Mutat 29:6-13.