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Items: 1 to 20 of 87

1.

Guidelines for establishing locus specific databases.

Vihinen M, den Dunnen JT, Dalgleish R, Cotton RG.

Hum Mutat. 2012 Feb;33(2):298-305. doi: 10.1002/humu.21646. Epub 2011 Dec 9.

PMID:
22052659
2.

Curating gene variant databases (LSDBs): toward a universal standard.

Celli J, Dalgleish R, Vihinen M, Taschner PE, den Dunnen JT.

Hum Mutat. 2012 Feb;33(2):291-7. doi: 10.1002/humu.21626. Epub 2011 Nov 3.

PMID:
21990126
3.

Recommendations for locus-specific databases and their curation.

Cotton RG, Auerbach AD, Beckmann JS, Blumenfeld OO, Brookes AJ, Brown AF, Carrera P, Cox DW, Gottlieb B, Greenblatt MS, Hilbert P, Lehvaslaiho H, Liang P, Marsh S, Nebert DW, Povey S, Rossetti S, Scriver CR, Summar M, Tolan DR, Verma IC, Vihinen M, den Dunnen JT.

Hum Mutat. 2008 Jan;29(1):2-5.

4.

Time for a unified system of mutation description and reporting: a review of locus-specific mutation databases.

Claustres M, Horaitis O, Vanevski M, Cotton RG.

Genome Res. 2002 May;12(5):680-8.

5.

Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs).

Povey S, Al Aqeel AI, Cambon-Thomsen A, Dalgleish R, den Dunnen JT, Firth HV, Greenblatt MS, Barash CI, Parker M, Patrinos GP, Savige J, Sobrido MJ, Winship I, Cotton RG; Ethics Committee of the Human Genome Organization (HUGO).

Hum Mutat. 2010 Nov;31(11):1179-84. doi: 10.1002/humu.21339.

6.

Somatic mutation databases as tools for molecular epidemiology and molecular pathology of cancer: proposed guidelines for improving data collection, distribution, and integration.

Olivier M, Petitjean A, Teague J, Forbes S, Dunnick JK, den Dunnen JT, Langerød A, Wilkinson JM, Vihinen M, Cotton RG, Hainaut P; IARC; EC FP6.

Hum Mutat. 2009 Mar;30(3):275-82. doi: 10.1002/humu.20832.

PMID:
19006239
7.

Locus-specific database domain and data content analysis: evolution and content maturation toward clinical use.

Mitropoulou C, Webb AJ, Mitropoulos K, Brookes AJ, Patrinos GP.

Hum Mutat. 2010 Oct;31(10):1109-16. doi: 10.1002/humu.21332.

PMID:
20672379
8.

Sharing data between LSDBs and central repositories.

den Dunnen JT, Sijmons RH, Andersen PS, Vihinen M, Beckmann JS, Rossetti S, Talbot CC Jr, Hardison RC, Povey S, Cotton RG.

Hum Mutat. 2009 Apr;30(4):493-5. doi: 10.1002/humu.20977.

9.

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

Fokkema IF, den Dunnen JT, Taschner PE.

Hum Mutat. 2005 Aug;26(2):63-8.

PMID:
15977173
10.

Quality controls in integrative approaches to detect errors and inconsistencies in biological databases.

Ghisalberti G, Masseroli M, Tettamanti L.

J Integr Bioinform. 2010 Mar 25;7(3). doi: 10.2390/biecoll-jib-2010-119.

PMID:
20375464
11.

Evolutionary characters, phenotypes and ontologies: curating data from the systematic biology literature.

Dahdul WM, Balhoff JP, Engeman J, Grande T, Hilton EJ, Kothari C, Lapp H, Lundberg JG, Midford PE, Vision TJ, Westerfield M, Mabee PM.

PLoS One. 2010 May 20;5(5):e10708. doi: 10.1371/journal.pone.0010708.

12.

COMUS: Clinician-Oriented locus-specific MUtation detection and deposition System.

Jho S, Kim BC, Ghang H, Kim JH, Park D, Kim HM, Jung SY, Yoo KY, Kim HJ, Lee S, Bhak J.

BMC Genomics. 2009 Dec 3;10 Suppl 3:S35. doi: 10.1186/1471-2164-10-S3-S35.

13.

Text mining and protein annotations: the construction and use of protein description sentences.

Krallinger M, Malik R, Valencia A.

Genome Inform. 2006;17(2):121-30.

PMID:
17503385
14.

Locus-specific databases and recommendations to strengthen their contribution to the classification of variants in cancer susceptibility genes.

Greenblatt MS, Brody LC, Foulkes WD, Genuardi M, Hofstra RM, Olivier M, Plon SE, Sijmons RH, Sinilnikova O, Spurdle AB; IARC Unclassified Genetic Variants Working Group.

Hum Mutat. 2008 Nov;29(11):1273-81. doi: 10.1002/humu.20889.

15.

Locus-specific databases: from ethical principles to practice.

Cotton RG, Sallée C, Knoppers BM.

Hum Mutat. 2005 Nov;26(5):489-93.

PMID:
16173034
16.

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

Cotton RG, Phillips K, Horaitis O.

J Med Genet. 2007 Apr;44(4):e72.

17.

Searching the Mouse Genome Informatics (MGI) resources for information on mouse biology from genotype to phenotype.

Shaw D.

Curr Protoc Bioinformatics. 2004 May;Chapter 1:Unit 1.7. doi: 10.1002/0471250953.bi0107s05.

PMID:
18428715
18.

DRUMS: a human disease related unique gene mutation search engine.

Li Z, Liu X, Wen J, Xu Y, Zhao X, Li X, Liu L, Zhang X.

Hum Mutat. 2011 Oct;32(10):E2259-65. doi: 10.1002/humu.21556.

PMID:
21913285
19.

Locus-specific databases in cancer: what future in a post-genomic era? The TP53 LSDB paradigm.

Soussi T.

Hum Mutat. 2014 Jun;35(6):643-53. doi: 10.1002/humu.22518. Epub 2014 Mar 5. Review.

PMID:
24478183
20.

An integrated Korean biodiversity and genetic information retrieval system.

Lim J, Bhak J, Oh HM, Kim CB, Park YH, Paek WK.

BMC Bioinformatics. 2008 Dec 12;9 Suppl 12:S24. doi: 10.1186/1471-2105-9-S12-S24.

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