Genetic diagnosis by whole exome capture and massively parallel DNA sequencing (Q22066282)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19861545 AND SRC:MED&resulttype=core&format=json

11 February 2020

title

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19861545 AND SRC:MED&resulttype=core&format=json

11 February 2020

0 references

1 reference

1

Murim Choi

Murim

Choi

1 reference

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11 February 2020

9

Seza Ozen

Seza

Ozen

1 reference

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11 February 2020

14

Richard P

Lifton

Richard P Lifton

1 reference

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11 February 2020

Ute I Scholl

2

Ute I

Scholl

1 reference

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11 February 2020

Weizhen Ji

3

Weizhen

Ji

1 reference

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11 February 2020

Tiewen Liu

4

Tiewen

Liu

1 reference

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11 February 2020

Irina R Tikhonova

5

Irina R

Tikhonova

1 reference

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11 February 2020

Paul Zumbo

6

Paul

Zumbo

1 reference

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11 February 2020

Ahmet Nayir

7

Ahmet

Nayir

1 reference

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11 February 2020

Ayşin Bakkaloğlu

8

Ayşin

Bakkaloğlu

1 reference

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11 February 2020

Sami Sanjad

10

Sami

Sanjad

1 reference

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11 February 2020

Carol Nelson-Williams

11

Carol

Nelson-Williams

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19861545 AND SRC:MED&resulttype=core&format=json

11 February 2020

Anita Farhi

12

Anita

Farhi

1 reference

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11 February 2020

Shrikant Mane

13

Shrikant

Mane

1 reference

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11 February 2020

language of work or name

English

0 references

publication date

27 October 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19861545 AND SRC:MED&resulttype=core&format=json

Proceedings of the National Academy of Sciences of the United States of America

11 February 2020

published in

1 reference

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11 February 2020

volume

106

1 reference

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11 February 2020

issue

45

1 reference

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11 February 2020

page(s)

19096-19101

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19861545 AND SRC:MED&resulttype=core&format=json

Targeted capture and massively parallel sequencing of 12 human exomes

11 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768590

Fast and accurate short read alignment with Burrows-Wheeler transform

19 March 2017

1 reference

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Common variants at 30 loci contribute to polygenic dyslipidemia

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768590

The diploid genome sequence of an Asian individual

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768590

Accurate whole human genome sequencing using reversible terminator chemistry

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768590

An integrated genomic analysis of human glioblastoma multiforme

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768590

Mapping short DNA sequencing reads and calling variants using mapping quality scores

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768590

Genetic variation in an individual human exome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768590

Rare independent mutations in renal salt handling genes contribute to blood pressure variation

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768590

Clustering of private mutations in the congenital chloride diarrhea/down-regulated in adenoma gene

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768590

Mutations of the Down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768590

The complete genome of an individual by massively parallel DNA sequencing

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768590

Multiple Rare Alleles Contribute to Low Plasma Levels of HDL Cholesterol

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768590

The Sequence Alignment/Map format and SAMtools

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768590

Base-calling of automated sequencer traces using phred. II. Error probabilities

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768590

Detection of large-scale variation in the human genome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768590

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695132

Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768590

Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768590

Genetic mapping in human disease

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768590

Common and rare variants in multifactorial susceptibility to common diseases

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768590

Discovery of rare variants via sequencing: implications for the design of complex trait association studies

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768590

Congenital chloride-losing diarrhea causing mutations in the STAS domain result in misfolding and mistrafficking of SLC26A3.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768590

Direct selection of human genomic loci by microarray hybridization

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768590

slc26a3 (dra)-deficient mice display chloride-losing diarrhea, enhanced colonic proliferation, and distinct up-regulation of ion transporters in the colon

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768590

Genome-wide association studies: theoretical and practical concerns

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768590

14 Isolation of specific RNAs using DNA covalently linked to diazobenzyloxymethyl cellulose or paper

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768590

Genomewide association studies--illuminating biologic pathways

27 September 2017

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19861545

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

New Methods for Detecting Lineage-Specific Selection

1 reference

Crossref

https://api.crossref.org/works/10.1073/PNAS.0910672106

inferred from DOI database lookup

7 January 2021

based on heuristic

Base-calling of automated sequencer traces using phred. I. Accuracy assessment

1 reference

Crossref

https://api.crossref.org/works/10.1073/PNAS.0910672106

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1073/PNAS.0910672106

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19861545 AND SRC:MED&resulttype=core&format=json

11 February 2020

ADS bibcode

2009PNAS..10619096C

0 references

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19861545 AND SRC:MED&resulttype=core&format=json

11 February 2020

PubMed publication ID

19861545

2 references