(Q34635959)

3 August 2017

title

Automated validation of genetic variants from large databases: ensuring that variant references refer to the same genomic locations (English)

1 reference

3 August 2017

0 references

3

Isaac S Kohane

1 reference

3 August 2017

Mark Y Tong

1

1 reference

3 August 2017

Christopher A Cassa

series ordinal

2

1 reference

3 August 2017

language of work or name

English

0 references

publication date

22 January 2011

1 reference

3 August 2017

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3 August 2017

volume

27

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3 August 2017

issue

6

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3 August 2017

page(s)

891-893

1 reference

Clinical assessment incorporating a personal genome

3 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3051330

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3051330

McKusick's Online Mendelian Inheritance in Man (OMIM)

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3051330

The incidentalome: a threat to genomic medicine

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3051330

Automated extraction of mutation data from the literature: application of MuteXt to G protein-coupled receptors and nuclear hormone receptors

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3051330

The human genome browser at UCSC

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3051330

Codon usage tabulated from international DNA sequence databases: status for the year 2000

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3051330

Mutation creating a new splice site in the growth hormone receptor genes of 37 Ecuadorean patients with Laron syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3051330

Common sense for our genomes

7 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FBIOINFORMATICS%2FBTR029

The Human Gene Mutation Database: 2008 update

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FBIOINFORMATICS%2FBTR029

Novel tools for extraction and validation of disease-related mutations applied to Fabry disease

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21258063

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Challenges in the clinical application of whole-genome sequencing

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21258063

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/BIOINFORMATICS/BTR029

1 reference

journals/bioinformatics/TongCK11

3 August 2017

DBLP publication ID

1 reference

DBLP Dataset 2021-01-02

28 January 2021

1 reference

3 August 2017

1 reference