Locus-specific mutation databases: pitfalls and good practice based on the p53 experience (Q59526197)

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15 January 2020

review article

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title

Locus-specific mutation databases: pitfalls and good practice based on the p53 experience (English)

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15 January 2020

1

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15 January 2020

Christophe Beroud

series ordinal

4

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15 January 2020

author name string

Chikashi Ishioka

series ordinal

2

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15 January 2020

Mireille Claustres

series ordinal

3

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15 January 2020

language of work or name

English

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publication date

1 January 2006

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15 January 2020

published in

Nature Reviews Cancer

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15 January 2020

volume

6

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15 January 2020

issue

1

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15 January 2020

page(s)

83-90

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Positional cloning moves from perditional to traditional

15 January 2020

cites work

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Mutation detection 2001: Novel technologies, developments and applications for analysis of the human genome. Proceedings of the 6th International Symposium on Mutations in the Human Genome. Bled, Slovenia, 2001

31 March 2020

1 reference

VARIATION, DATABASES, and DISEASE: new directions for human mutation

31 March 2020

1 reference

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

31 March 2020

1 reference

Hepatocellular carcinoma: from gene to public health.

31 March 2020

1 reference

Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A.

31 March 2020

1 reference

A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma

31 March 2020

1 reference

Germline RET mutations in MEN 2A and FMTC and their detection by simple DNA diagnostic tests

31 March 2020

1 reference

Mutations of the RET proto-oncogene in Hirschsprung's disease

31 March 2020

1 reference

Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease

31 March 2020

1 reference

Restriction of ocular fundus lesions to a specific subgroup of APC mutations in adenomatous polyposis coli patients.

31 March 2020

1 reference

Alleles of the APC gene: an attenuated form of familial polyposis

31 March 2020

1 reference

Mutations of the VHL gene in sporadic renal cell carcinoma: definition of a risk factor for VHL patients to develop an RCC

31 March 2020

1 reference

The genome data base (GDB)--a human gene mapping repository

31 March 2020

1 reference

The GenBank genetic sequence databank

31 March 2020

1 reference

31 March 2020

The EMBL data library

1 reference

The SWISS-PROT protein sequence data bank

31 March 2020

1 reference

31 March 2020

1 reference

The challenge of documenting mutation across the genome: the human genome variation society approach

31 March 2020

1 reference

Human Gene Mutation Database (HGMD): 2003 update

31 March 2020

1 reference

UMD (Universal mutation database): a generic software to build and analyze locus-specific databases

31 March 2020

1 reference

p53 and APC gene mutations: software and databases

31 March 2020

1 reference

Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein.

31 March 2020

1 reference

Software and database for the analysis of mutations in the VHL gene

31 March 2020

1 reference

Software and database for the analysis of mutations in the human WT1 gene

31 March 2020

1 reference

Software and database for the analysis of mutations in the human FBN1 gene

31 March 2020

1 reference

Software and database for the analysis of mutations in the human LDL receptor gene

31 March 2020

1 reference

The type of somatic mutation at APC in familial adenomatous polyposis is determined by the site of the germline mutation: a new facet to Knudson's 'two-hit' hypothesis

31 March 2020

1 reference

Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors

31 March 2020

1 reference

The p53 tumour suppressor gene: a model for molecular epidemiology of human cancer

31 March 2020

1 reference

'A variant of uncertain significance' and the proliferation of human disease gene databases

31 March 2020

1 reference

A census of human cancer genes

31 March 2020

1 reference

The origin of the major cystic fibrosis mutation (delta F508) in European populations.

31 March 2020

1 reference

UMD (Universal Mutation Database): 2005 update

31 March 2020

1 reference

MuStaR and other software for locus-specific mutation databases

31 March 2020

1 reference

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

31 March 2020

1 reference

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

31 March 2020

1 reference

Intellectual property. Europe's database experiment

31 March 2020

1 reference

A universal legal framework as a prerequisite for database interoperability

31 March 2020

1 reference

Assessing TP53 status in human tumours to evaluate clinical outcome

31 March 2020

1 reference

Significance of TP53 mutations in human cancer: a critical analysis of mutations at CpG dinucleotides

31 March 2020

1 reference

America at home and abroad

31 March 2020

1 reference

Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis

31 March 2020

1 reference

Reassessment of the TP53 mutation database in human disease by data mining with a library of TP53 missense mutations

31 March 2020

1 reference

p53 mutations, benzo[a]pyrene and lung cancer.

31 March 2020

1 reference

Classification of BRCA1 missense variants of unknown clinical significance

31 March 2020

1 reference

Understanding missense mutations in the BRCA1 gene: an evolutionary approach

31 March 2020

1 reference

Involvement of 5-methylcytosine in sunlight-induced mutagenesis

31 March 2020

1 reference

Cytosine methylation determines hot spots of DNA damage in the human P53 gene

31 March 2020

1 reference

31 March 2020

Identifiers

DOI

10.1038/NRC1783

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15 January 2020

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