(Q37205132)

18 August 2017

Large numbers of genetic variants considered to be pathogenic are common in asymptomatic individuals (English)

1 reference

18 August 2017

Daniel M Jordan

3

0 references

author name string

Christopher A Cassa

series ordinal

1

1 reference

18 August 2017

Mark Y Tong

series ordinal

2

1 reference

18 August 2017

5 August 2013

1 reference

18 August 2017

1 reference

18 August 2017

34

1 reference

18 August 2017

9

1 reference

18 August 2017

1216-1220

1 reference

Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions

18 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3786140

The predictive capacity of personal genome sequencing

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3786140

Taxonomizing, sizing, and overcoming the incidentalome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3786140

Disclosing pathogenic genetic variants to research participants: quantifying an emerging ethical responsibility

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3786140

Guidelines for establishing locus specific databases.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3786140

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3786140

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3786140

A map of human genome variation from population-scale sequencing

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3786140

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3786140

Resolving individuals contributing trace amounts of DNA to highly complex mixtures using high-density SNP genotyping microarrays

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3786140

The incidentalome: a threat to genomic medicine

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3786140

Integrating genotype and phenotype information: an overview of the PharmGKB project. Pharmacogenetics Research Network and Knowledge Base

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3786140

Predicting functional effect of human missense mutations using PolyPhen-2.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3786140

Recent explosive human population growth has resulted in an excess of rare genetic variants

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3786140

The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalized genomics

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3786140

Exome sequencing makes medical genomics a reality

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3786140

The Human Gene Mutation Database (HGMD) and its exploitation in the fields of personalized genomics and molecular evolution

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3786140

An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3786140

The impact of cellular networks on disease comorbidity

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3786140

A navigator for human genome epidemiology.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3786140

Medicine. Whole-genome sequencing: the new standard of care?

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3786140

20 October 2018

What's a Genome Worth?

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FHUMU.22375

Whole-Genome Sequencing: The New Standard of Care?

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FHUMU.22375

21 January 2018

Identifiers

DOI

10.1002/HUMU.22375

1 reference

release_kpmqk5k675d4bcldbonb32buca

18 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/kpmqk5k675d4bcldbonb32buca

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

18 August 2017

PubMed publication ID

23818451

1 reference