Next-generation diagnostics and disease-gene discovery with the Exomiser (Q33787807)

29 July 2017

title

Next-generation diagnostics and disease-gene discovery with the Exomiser (English)

1 reference

29 July 2017

1 reference

8

Tomasz Zemojtel

0 references

Peter Robinson

13

Peter N Robinson

0 references

Melissa Haendel

12

Melissa A Haendel

0 references

Damian Smedley

1

Damian Smedley

1 reference

29 July 2017

Sebastian Köhler

4

0 references

Manuel Holtgrewe

5

Manuel Holtgrewe

1 reference

29 July 2017

10

Nicole L Washington

1 reference

29 July 2017

9

Orion J Buske

1 reference

29 July 2017

Julius O B Jacobsen

2

1 reference

29 July 2017

Marten Jäger

3

1 reference

29 July 2017

Max Schubach

6

1 reference

29 July 2017

Enrico Siragusa

7

1 reference

29 July 2017

William P Bone

11

1 reference

29 July 2017

publication date

12 November 2015

1 reference

29 July 2017

1 reference

29 July 2017

volume

10

1 reference

29 July 2017

issue

12

1 reference

29 July 2017

page(s)

2004-2015

1 reference

York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1.

29 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5467691

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5467691

Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5467691

The UCSC Genome Browser database: 2015 update

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5467691

Gene Ontology Consortium: going forward

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5467691

OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5467691

Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5467691

Gene: a gene-centered information resource at NCBI.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5467691

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5467691

Phenomics and the interpretation of personal genomes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5467691

Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5467691

The influence of disease categories on gene candidate predictions from model organism phenotypes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5467691

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5467691

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5467691

A web-based interactive framework to assist in the prioritization of disease candidate genes in whole-exome sequencing studies

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5467691

Phevor combines multiple biomedical ontologies for accurate identification of disease-causing alleles in single individuals and small nuclear families

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5467691

Jannovar: a java library for exome annotation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5467691

The zebrafish anatomy and stage ontologies: representing the anatomy and development of Danio rerio

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5467691

Prioritizing disease-linked variants, genes, and pathways with an interactive whole-genome analysis pipeline

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5467691

Rare-variant extensions of the transmission disequilibrium test: application to autism exome sequence data

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5467691

A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5467691

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5467691

The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5467691

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5467691

eXtasy: variant prioritization by genomic data fusion.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5467691

Three-stage quality control strategies for DNA re-sequencing data

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5467691

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5467691

DeNovoGear: de novo indel and point mutation discovery and phasing.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5467691

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5467691

PhenoTips: patient phenotyping software for clinical and research use.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5467691

Low concordance of multiple variant-calling pipelines: practical implications for exome and genome 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=5467691

Predicting mendelian disease-causing non-synonymous single nucleotide variants in exome sequencing studies

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5467691

STRING v9.1: protein-protein interaction networks, with increased coverage and integration

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5467691

EVA: Exome Variation Analyzer, an efficient and versatile tool for filtering strategies in medical genomics

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5467691

Annotate-it: a Swiss-knife approach to annotation, analysis and interpretation of single nucleotide variation in human disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5467691

Computational tools for prioritizing candidate genes: boosting disease gene discovery

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5467691

Deep phenotyping for precision 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=5467691

Representation of rare diseases in health information systems: the Orphanet approach to serve a wide range of end users

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5467691

A systematic survey of loss-of-function variants in human protein-coding genes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5467691

Disease gene identification strategies for exome 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=5467691

A comprehensive framework for prioritizing variants in exome sequencing studies of Mendelian diseases

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5467691

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5467691

A probabilistic disease-gene finder for personal genomes.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5467691

BioPortal: enhanced functionality via new Web services from the National Center for Biomedical Ontology to access and use ontologies in software applications

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5467691

The variant call format and VCFtools

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5467691

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5467691

The Mouse Genome Database (MGD): premier model organism resource for mammalian genomics and 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=5467691

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=5467691

MutationTaster evaluates disease-causing potential of sequence alterations

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5467691

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5467691

The Ontology Lookup Service: bigger and better

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5467691

A method and server for predicting damaging missense mutations

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5467691

Entity/quality-based logical definitions for the human skeletal phenome using PATO

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5467691

Linking human diseases to animal models using ontology-based phenotype annotation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5467691

Exome sequencing identifies the cause of a mendelian disorder

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5467691

Clinical diagnostics in human genetics with semantic similarity searches in ontologies

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5467691

Targeted capture and massively parallel sequencing of 12 human exomes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5467691

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5467691

Fast and accurate short read alignment with Burrows-Wheeler transform

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5467691

The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5467691

Walking the interactome for prioritization of candidate disease genes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5467691

The modular nature of genetic diseases.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5467691

Molecular findings among patients referred for clinical whole-exome sequencing

28 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FNPROT.2015.124

MutationTaster2: mutation prediction for the deep-sequencing age.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNPROT.2015.124

The characterization of twenty sequenced human genomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNPROT.2015.124

The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNPROT.2015.124

Diagnostic exome sequencing in persons with severe intellectual disability

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNPROT.2015.124

Identification of two novel mutations in FAM136A and DTNA genes in autosomal-dominant familial Meniere's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNPROT.2015.124

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNPROT.2015.124

dbNSFP v2.0: a database of human non-synonymous SNVs and their functional predictions and annotations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNPROT.2015.124

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNPROT.2015.124

Finding disease variants in Mendelian disorders by using sequence data: methods and applications

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNPROT.2015.124

Phen-Gen: combining phenotype and genotype to analyze rare disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNPROT.2015.124

Crowdsourcing the corpasome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNPROT.2015.124

Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5467691

Database resources of the National Center for Biotechnology Information

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5467691

Construction and accessibility of a cross-species phenotype ontology along with gene annotations for biomedical research

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5467691

30 October 2018

Identifiers

DOI

10.1038/NPROT.2015.124

1 reference

Dimensions Publication ID

29 July 2017

0 references

1 reference

29 July 2017

1 reference