(Q37216033)

English

Opportunities and challenges for the integration of massively parallel genomic sequencing into clinical practice: lessons from the ClinSeq project

scientific article published on 16 February 2012

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Opportunities and challenges for the integration of massively parallel genomic sequencing into clinical practice: lessons from the ClinSeq project (English)

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Leslie G Biesecker

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Leslie G Biesecker

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Europe PubMed Central

19 August 2017

PMC publication ID

language of work or name

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publication date

16 February 2012

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Europe PubMed Central

PMC publication ID

19 August 2017

Genetics in Medicine

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Europe PubMed Central

PMC publication ID

19 August 2017

14

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

4

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

393-398

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

https://scigraph.springernature.com/pub.10.1038/gim.2011.78

0 references

Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790899

6 September 2017

A mosaic activating mutation in AKT1 associated with the Proteus syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790899

6 September 2017

Motivators for participation in a whole-genome sequencing study: implications for translational genomics research

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790899

6 September 2017

Ethical and practical guidelines for reporting genetic research results to study participants: updated guidelines from a National Heart, Lung, and Blood Institute working group

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790899

6 September 2017

Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790899

6 September 2017

Exome sequencing: the sweet spot before whole genomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790899

6 September 2017

Revealing the human mutome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790899

6 September 2017

Identification of a novel LDLR mutation (c.261_262invGA, p.Trp87X): Importance of specifying DNA and protein mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790899

6 September 2017

Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790899

6 September 2017

The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790899

6 September 2017

Charting a course for genomic medicine from base pairs to bedside

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790899

14 September 2017

Medicine. Reestablishing the researcher-patient compact.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3790899

3 September 2018

Public perspectives on informed consent for biobanking

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2011.78

21 January 2018

Vogel and Motulsky's Human Genetics

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2011.78

7 January 2021

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Identifiers

10.1038/GIM.2011.78

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Dimensions Publication ID

0 references

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

ResearchGate publication ID

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