(Q36054591)

11 August 2017

Comparison of locus-specific databases for BRCA1 and BRCA2 variants reveals disparity in variant classification within and among databases (English)

1 reference

11 August 2017

Paris J Vail

1

1 reference

11 August 2017

Brian Morris

2

1 reference

11 August 2017

Aric van Kan

3

1 reference

11 August 2017

Brianna C Burdett

4

1 reference

11 August 2017

Kelsey Moyes

5

1 reference

11 August 2017

Aaron Theisen

6

1 reference

11 August 2017

Iain D Kerr

7

1 reference

11 August 2017

Richard J Wenstrup

8

1 reference

11 August 2017

Julie M Eggington

9

1 reference

11 August 2017

18 March 2015

1 reference

Journal of Community Genetics

11 August 2017

1 reference

11 August 2017

6

1 reference

11 August 2017

4

1 reference

11 August 2017

351-359

1 reference

Creative Commons Attribution 4.0 International

11 August 2017

start time

18 March 2015

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4567983

ClinVar: public archive of relationships among sequence variation and human phenotype

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4567983

LOVD v.2.0: the next generation in gene variant databases

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4567983

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4567983

Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4567983

The breast cancer information core: database design, structure, and scope

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4567983

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4567983

Development and validation of a new algorithm for the reclassification of genetic variants identified in the BRCA1 and BRCA2 genes.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4567983

A comprehensive laboratory-based program for classification of variants of uncertain significance in hereditary cancer genes

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4567983

The Human Gene Mutation Database: 2008 update

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4567983

A yeast recombination assay to characterize human BRCA1 missense variants of unknown pathological significance.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4567983

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

23 September 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4567983

21 October 2018

https://api.crossref.org/works/10.1007%2FS12687-015-0220-X

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25782689

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S12687-015-0220-X

1 reference

11 August 2017

1 reference

11 August 2017

PubMed publication ID

25782689

1 reference