(Q36717755)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27054082%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

title

Comparing targeted exome and whole exome approaches for genetic diagnosis of neuromuscular disorders (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27054082%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27054082%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

Jean-Pierre Desvignes

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27054082%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

David Salgado

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27054082%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

Christophe Beroud

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27054082%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

Marc Bartoli

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27054082%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

author name string

Mathieu Cerino

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27054082%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

Yves Mathieu

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27054082%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

Sébastien Courrier

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27054082%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

Martin Krahn

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27054082%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

publication date

4 September 2015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27054082%20AND%20SRC:MED&resulttype=core&format=json

Applied & translational genomics

31 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27054082%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

volume

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27054082%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

page(s)

26-31

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27054082%20AND%20SRC:MED&resulttype=core&format=json

Clinical massively parallel sequencing for the diagnosis of myopathies

31 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803780

Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein-Coding Regions

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803780

From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803780

The UCSC Genome Browser database: 2015 update

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803780

Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803780

Diagnostic clinical genome and exome sequencing

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803780

Comprehensive analysis to improve the validation rate for single nucleotide variants detected by next-generation sequencing

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803780

Characterizing and measuring bias in sequence data

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803780

A framework for variation discovery and genotyping using next-generation DNA sequencing data

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803780

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803780

BEDTools: a flexible suite of utilities for comparing genomic features

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803780

Fast and accurate short read alignment with Burrows-Wheeler transform

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803780

Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803780

The 2014 version of the gene table of monogenic neuromuscular disorders (nuclear genome).

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4803780

Improving molecular diagnosis of distal myopathies by targeted next-generation sequencing: Table 1

5 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27054082

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.ATG.2015.07.006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27054082%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27054082%20AND%20SRC:MED&resulttype=core&format=json

31 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27054082%20AND%20SRC:MED&resulttype=core&format=json