Utility of gene-specific algorithms for predicting pathogenicity of uncertain gene variants (Q34061608)

30 July 2017

Utility of gene-specific algorithms for predicting pathogenicity of uncertain gene variants (English)

1 reference

30 July 2017

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Marc S Williams

3

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Julio C Facelli

object named as

Julio C Facelli

5

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author name string

David K Crockett

1

1 reference

30 July 2017

Elaine Lyon

2

1 reference

30 July 2017

Scott P Narus

4

1 reference

30 July 2017

Joyce A Mitchell

6

1 reference

30 July 2017

28 October 2011

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Journal of the American Medical Informatics Association

30 July 2017

1 reference

30 July 2017

19

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30 July 2017

2

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30 July 2017

207-211

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Predicting phenotypic severity of uncertain gene variants in the RET proto-oncogene

30 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277614

Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277614

Global analysis of disease-related DNA sequence variation in 10 healthy individuals: implications for whole genome-based clinical diagnostics

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277614

Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277614

Personalized medicine - the promised land: are we there yet?

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277614

A map of human genome variation from population-scale sequencing

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277614

Understanding the population structure of North American patients with cystic fibrosis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277614

The Alport syndrome COL4A5 variant database

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277614

Developing the blueprint for a genetic testing registry

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277614

The genome-enabled electronic medical record

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277614

PMUT: a web-based tool for the annotation of pathological mutations on proteins.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277614

In silico prediction of the deleterious effect of a mutation: proceed with caution in clinical genetics

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277614

Data mining in bioinformatics using Weka

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277614

SIFT: Predicting amino acid changes that affect protein function

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277614

Human non-synonymous SNPs: server and survey

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277614

AAindex: amino acid index database

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277614

Electronic medical records and personalized medicine

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277614

Personalized genomic information: preparing for the future of genetic medicine

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277614

Capturing all disease-causing mutations for clinical and research use: toward an effortless system for the Human Variome Project

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277614

Automated inference of molecular mechanisms of disease from amino acid substitutions.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277614

Multiple endocrine neoplasia type 2 RET protooncogene database: repository of MEN2-associated RET sequence variation and reference for genotype/phenotype correlations.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277614

Mutation database for the galactose-1-phosphate uridyltransferase (GALT) gene

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277614

Human genome 10th anniversary. Human genetics in the clinic, one click away

28 October 2018

1 reference

12 December 2020

Performance of mutation pathogenicity prediction methods on missense variants

1 reference

12 December 2020

Comparison of programs for in silico assessment of missense substitutions

1 reference

12 December 2020

Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase

1 reference

12 December 2020

10.1136/AMIAJNL-2011-000309

Identifiers

DOI

1 reference

journals/jamia/CrockettLWNFM12

30 July 2017

1 reference

DBLP Dataset 2021-01-02

28 January 2021

1 reference

30 July 2017

1 reference