Phenotype-driven strategies for exome prioritization of human Mendelian disease genes (Q26801094)

26 June 2017

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title

Phenotype-driven strategies for exome prioritization of human Mendelian disease genes (English)

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26 June 2017

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2

Peter N Robinson

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Damian Smedley

series ordinal

1

object named as

Damian Smedley

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PubMed ID

26229552

26 June 2017

language of work or name

English

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publication date

30 July 2015

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26 June 2017

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26 June 2017

7

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26 June 2017

81

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26 June 2017

1

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Creative Commons Attribution 4.0 International

26 June 2017

start time

30 July 2015

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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exact match

https://scigraph.springernature.com/pub.10.1186/s13073-015-0199-2

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cites work

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28 September 2017

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28 September 2017

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Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases

28 September 2017

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Clinical phenotype-based gene prioritization: an initial study using semantic similarity and the human phenotype ontology

28 September 2017

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28 September 2017

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Genome sequencing identifies major causes of severe intellectual disability

28 September 2017

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28 September 2017

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28 September 2017

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28 September 2017

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Clinical exome sequencing in daily practice: 1,000 patients and beyond

28 September 2017

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28 September 2017

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28 September 2017

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Clinical whole-exome sequencing for the diagnosis of mendelian disorders

28 September 2017

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28 September 2017

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Rare-disease genetics in the era of next-generation sequencing: discovery to translation

28 September 2017

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PhenoDigm: analyzing curated annotations to associate animal models with human diseases

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4520011

Phenotypic overlap in the contribution of individual genes to CNV pathogenicity revealed by cross-species computational analysis of single-gene mutations in humans, mice and zebrafish

28 September 2017

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Bayesian ontology querying for accurate and noise-tolerant semantic searches

28 September 2017

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Computational tools for prioritizing candidate genes: boosting disease gene discovery

28 September 2017

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SIFT web server: predicting effects of amino acid substitutions on proteins

28 September 2017

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The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases

28 September 2017

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Exact score distribution computation for ontological similarity searches.

28 September 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4520011

Whole-animal imaging, gene function, and the Zebrafish Phenome Project

28 September 2017

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A probabilistic disease-gene finder for personal genomes.

28 September 2017

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Strategies for exome and genome sequence data analysis in disease-gene discovery projects

28 September 2017

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28 September 2017

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28 September 2017

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28 September 2017

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Gene prioritization through genomic data fusion

28 September 2017

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A combined functional annotation score for non-synonymous variants

28 September 2017

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Reducing the exome search space for mendelian diseases using genetic linkage analysis of exome genotypes

31 May 2018

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Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study.

31 May 2018

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21 January 2018

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Diagnostic exome sequencing in persons with severe intellectual disability

21 January 2018

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21 January 2018

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21 January 2018

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PubMed

https://pubmed.ncbi.nlm.nih.gov/26229552

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/S13073-015-0199-2

1 reference

PubMed ID

26229552

Dimensions Publication ID

26 June 2017

1011378546

0 references

OpenCitations bibliographic resource ID

2421632

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

PubMed ID

26229552