Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders. (Q49912348)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29453417 AND SRC:MED&resulttype=core&format=json

17 March 2020

title

Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders (English)

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17 March 2020

2

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17 March 2020

Susan White

8

1 reference

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17 March 2020

Tiong Y Tan

9

1 reference

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17 March 2020

3

Zornitza Stark

1 reference

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17 March 2020

4

Alison Yeung

1 reference

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Melbourne Genomics Health Alliance

17 March 2020

6

object named as

Melbourne Genomics Health Alliance

1 reference

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17 March 2020

7

Clara Gaff

1 reference

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17 March 2020

1

Oliver James Dillon

1 reference

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17 March 2020

author name string

Natalie Thorne

5

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17 March 2020

publication date

16 February 2018

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29453417 AND SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

17 March 2020

published in

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17 March 2020

volume

26

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17 March 2020

issue

5

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17 March 2020

page(s)

644-651

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Preparing for genomic medicine: a real world demonstration of health system change

17 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=8635679

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=8635679

Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions.

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=8635679

Evaluation of whole exome sequencing by targeted gene sequencing and Sanger sequencing

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=8635679

Clinical genetic testing in pediatric cardiomyopathy: Is bigger better?

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=8635679

Lessons learned from additional research analyses of unsolved clinical exome cases

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=8635679

Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=8635679

Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers.

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=8635679

A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=8635679

Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=8635679

Clinical application of whole-exome sequencing across clinical indications

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=8635679

ClinVar: public archive of interpretations of clinically relevant variants

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=8635679

Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=8635679

Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=8635679

Clinical application of next-generation sequencing for Mendelian diseases

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=8635679

Large-scale discovery of novel genetic causes of developmental disorders

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=8635679

Targeted next-generation sequencing identifies pathogenic variants in familial congenital heart disease

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=8635679

Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=8635679

Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=8635679

A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=8635679

Targeted next-generation sequencing panels for monogenetic disorders in clinical diagnostics: the opportunities and challenges

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=8635679

Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=8635679

Clinical exome sequencing for genetic identification of rare Mendelian disorders

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=8635679

Molecular findings among patients referred for clinical whole-exome sequencing

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=8635679

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

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=8635679

Targeted gene panel sequencing in children with very early onset inflammatory bowel disease--evaluation and prospective analysis.

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=8635679

Variant detection sensitivity and biases in whole genome and exome sequencing

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=8635679

The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=8635679

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=8635679

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=8635679

The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=8635679

ACMG clinical laboratory standards for next-generation sequencing

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=8635679

Best practice guidelines for the use of next-generation sequencing applications in genome diagnostics: a national collaborative study of Dutch genome diagnostic laboratories

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=8635679

PhenoTips: patient phenotyping software for clinical and research use.

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=8635679

Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=8635679

The NIH genetic testing registry: a new, centralized database of genetic tests to enable access to comprehensive information and improve transparency

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=8635679

A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=8635679

Diagnostic yield of clinical next-generation sequencing panels for epilepsy

30 November 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038/S41431-018-0099-1

inferred from DOI database lookup

7 January 2021

based on heuristic

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

1 reference

Crossref

https://api.crossref.org/works/10.1038/S41431-018-0099-1

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/S41431-018-0099-1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29453417 AND SRC:MED&resulttype=core&format=json

17 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29453417 AND SRC:MED&resulttype=core&format=json

17 March 2020

PubMed publication ID

29453417

1 reference