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Clinical exome performance for reporting secondary genetic findings
scientific article
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scholarly article
1 reference
stated in
Europe PubMed Central
PMC publication ID
4404496
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25414276%20AND%20SRC:MED&resulttype=core&format=json
retrieved
23 February 2020
title
Clinical exome performance for reporting secondary genetic findings
(English)
1 reference
stated in
Europe PubMed Central
PMC publication ID
4404496
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25414276%20AND%20SRC:MED&resulttype=core&format=json
retrieved
23 February 2020
author
Jason Y. Park
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMC publication ID
4404496
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25414276%20AND%20SRC:MED&resulttype=core&format=json
retrieved
23 February 2020
Peter M Clark
series ordinal
2
1 reference
stated in
Europe PubMed Central
PMC publication ID
4404496
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25414276%20AND%20SRC:MED&resulttype=core&format=json
retrieved
23 February 2020
Eric Londin
series ordinal
3
1 reference
stated in
Europe PubMed Central
PMC publication ID
4404496
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25414276%20AND%20SRC:MED&resulttype=core&format=json
retrieved
23 February 2020
Marialuisa Sponziello
series ordinal
4
1 reference
stated in
Europe PubMed Central
PMC publication ID
4404496
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25414276%20AND%20SRC:MED&resulttype=core&format=json
retrieved
23 February 2020
Larry J. Kricka
series ordinal
5
object named as
Larry J Kricka
1 reference
stated in
Europe PubMed Central
PMC publication ID
4404496
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25414276%20AND%20SRC:MED&resulttype=core&format=json
retrieved
23 February 2020
author name string
Paolo Fortina
series ordinal
6
1 reference
stated in
Europe PubMed Central
PMC publication ID
4404496
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25414276%20AND%20SRC:MED&resulttype=core&format=json
retrieved
23 February 2020
language of work or name
English
0 references
publication date
20 November 2014
1 reference
stated in
Europe PubMed Central
PMC publication ID
4404496
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25414276%20AND%20SRC:MED&resulttype=core&format=json
retrieved
23 February 2020
published in
Clinical Chemistry
1 reference
stated in
Europe PubMed Central
PMC publication ID
4404496
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25414276%20AND%20SRC:MED&resulttype=core&format=json
retrieved
23 February 2020
volume
61
1 reference
stated in
Europe PubMed Central
PMC publication ID
4404496
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25414276%20AND%20SRC:MED&resulttype=core&format=json
retrieved
23 February 2020
issue
1
1 reference
stated in
Europe PubMed Central
PMC publication ID
4404496
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25414276%20AND%20SRC:MED&resulttype=core&format=json
retrieved
23 February 2020
page(s)
213-220
1 reference
stated in
Europe PubMed Central
PMC publication ID
4404496
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25414276%20AND%20SRC:MED&resulttype=core&format=json
retrieved
23 February 2020
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PubMed Central
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Return of secondary genomic findings vs patient autonomy: implications for medical care
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25 September 2017
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Reporting genomic sequencing results to ordering clinicians: incidental, but not exceptional
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25 September 2017
ACMG clinical laboratory standards for next-generation sequencing
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25 September 2017
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
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25 September 2017
Quantifying single nucleotide variant detection sensitivity in exome sequencing
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Characterizing and measuring bias in sequence data
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25 September 2017
Point-counterpoint. Patient autonomy and incidental findings in clinical genomics
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25 September 2017
Point-counterpoint. Ethics and genomic incidental findings
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25 September 2017
Assessment of clinical analytical sensitivity and specificity of next-generation sequencing for detection of simple and complex mutations
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25 September 2017
An informatics approach to analyzing the incidentalome
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25 September 2017
Optimizing Illumina next-generation sequencing library preparation for extremely AT-biased genomes.
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25 September 2017
A comparative analysis of exome capture
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25 September 2017
Comprehensive comparison of three commercial human whole-exome capture platforms
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25 September 2017
Comparison of solution-based exome capture methods for next generation sequencing
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25 September 2017
Performance comparison of exome DNA sequencing technologies
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25 September 2017
Analyzing and minimizing PCR amplification bias in Illumina sequencing libraries
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BEDTools: a flexible suite of utilities for comparing genomic features
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25 September 2017
The Sequence Alignment/Map format and SAMtools
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25 September 2017
SHRiMP: accurate mapping of short color-space reads
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25 September 2017
Substantial biases in ultra-short read data sets from high-throughput DNA sequencing
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25 September 2017
ACMG recommendations on incidental findings are flawed scientifically and ethically
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4404496
retrieved
15 June 2018
Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing.
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reference URL
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15 June 2018
Practices and policies of clinical exome sequencing providers: analysis and implications.
1 reference
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PubMed Central
reference URL
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retrieved
20 August 2018
Identifiers
DOI
10.1373/CLINCHEM.2014.231456
1 reference
stated in
Europe PubMed Central
PMC publication ID
4404496
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25414276%20AND%20SRC:MED&resulttype=core&format=json
retrieved
23 February 2020
PMC publication ID
4404496
1 reference
stated in
Europe PubMed Central
PMC publication ID
4404496
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25414276%20AND%20SRC:MED&resulttype=core&format=json
retrieved
23 February 2020
PubMed publication ID
25414276
1 reference
stated in
Europe PubMed Central
PMC publication ID
4404496
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25414276%20AND%20SRC:MED&resulttype=core&format=json
retrieved
23 February 2020
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