Streamlined ion torrent PGM-based diagnostics: BRCA1 and BRCA2 genes as a model (Q30574042)

21 August 2017

Streamlined ion torrent PGM-based diagnostics: BRCA1 and BRCA2 genes as a model (English)

1 reference

21 August 2017

Dominique Stoppa-Lyonnet

14

Dominique Stoppa-Lyonnet

0 references

Marc-Henri Stern

Marc-Henri Stern

12

0 references

Emmanuel Barillot

Emmanuel Barillot

11

0 references

Virginie Caux-Moncoutier

3

Virginie Moncoutier

1 reference

21 August 2017

15

Claude Houdayer

1 reference

21 August 2017

9

Etienne Rouleau

1 reference

21 August 2017

5

Khadija Abidallah

1 reference

21 August 2017

10

Lisa Golmard

1 reference

21 August 2017

Julien Tarabeux

1

1 reference

21 August 2017

Bruno Zeitouni

2

1 reference

21 August 2017

Henrique Tenreiro

4

1 reference

21 August 2017

Séverine Lair

6

1 reference

21 August 2017

Patricia Legoix-Né

7

1 reference

21 August 2017

Quentin Leroy

8

1 reference

21 August 2017

Thomas Rio-Frio

13

1 reference

21 August 2017

14 August 2013

1 reference

European Journal of Human Genetics

21 August 2017

1 reference

21 August 2017

22

1 reference

21 August 2017

4

1 reference

21 August 2017

535-541

1 reference

Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes

21 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953907

Mutation analysis of BRCA1, BRCA2, PALB2 and BRD7 in a hospital-based series of German patients with triple-negative breast cancer

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953907

Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953907

Integrated annotation and analysis of genetic variants from next-generation sequencing studies with variant tools

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953907

Practical tools to implement massive parallel pyrosequencing of PCR products in next generation molecular diagnostics

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953907

Advances in Alport syndrome diagnosis using next-generation sequencing

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953907

An integrated semiconductor device enabling non-optical genome sequencing

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953907

Carrier testing for severe childhood recessive diseases by next-generation sequencing

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953907

Differential expression analysis for sequence count data

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953907

Galaxy: a comprehensive approach for supporting accessible, reproducible, and transparent computational research in the life sciences

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953907

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953907

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953907

BRCA1 sequence variations in 160 individuals referred to a breast/ovarian family cancer clinic. Institut Curie Breast Cancer Group

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953907

More powerful procedures for multiple significance testing

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953907

Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease

28 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.181

Long-range PCR and next-generation sequencing of BRCA1 and BRCA2 in breast cancer.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.181

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.181

Screening for a BRCA2 rearrangement in high-risk breast/ovarian cancer families: evidence for a founder effect and analysis of the associated phenotypes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.181

EMMA, a cost- and time-effective diagnostic method for simultaneous detection of point mutations and large-scale genomic rearrangements: application to BRCA1 and BRCA2 in 1,525 patients

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23942203

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Molecular analysis of the breast cancer genes BRCA1 and BRCA2 using amplicon-based massive parallel pyrosequencing

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23942203

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2013.181

1 reference

21 August 2017

1 reference

21 August 2017

PubMed publication ID

23942203

1 reference