(Q36268400)

13 August 2017

The human gene damage index as a gene-level approach to prioritizing exome variants (English)

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13 August 2017

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17

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21

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22

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24

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13 August 2017

Jean-Laurent Casanova

26

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13 August 2017

14

Patrick Nitschke

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Janet G Markle

Janet G Markle

10

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Michael J Ciancanelli

Michael J Ciancanelli

8

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Etienne Patin

Etienne Patin

4

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Bertrand Boisson

Bertrand Boisson

3

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Laurent Abel

Laurent Abel

25

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Stephanie Boisson-Dupuis

Stéphanie Boisson-Dupuis

18

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Jacinta Bustamante

Jacinta Bustamante

16

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Jean-Michel Claverie

Jean-Michel Claverie

23

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Joseph G Gleeson

20

Joseph G Gleeson

1 reference

13 August 2017

9

Fabien G Lafaille

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13 August 2017

1

Yuval Itan

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13 August 2017

13

Xiao-Fei Kong

1 reference

Ruben Martinez-Barricarte

13 August 2017

11

Ruben Martinez-Barricarte

1 reference

13 August 2017

19

Peter D Stenson

1 reference

13 August 2017

Marcela Moncada-Vélez

6

Marcela Moncada-Vélez

1 reference

13 August 2017

12

Sarah Jill de Jong

1 reference

13 August 2017

Lei Shang

2

1 reference

13 August 2017

Alexandre Bolze

5

1 reference

13 August 2017

Eric Scott

7

1 reference

13 August 2017

Patrick Nitschke

14

1 reference

13 August 2017

Aziz Belkadi

15

1 reference

13 August 2017

language of work or name

English

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publication date

19 October 2015

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Proceedings of the National Academy of Sciences of the United States of America

13 August 2017

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13 August 2017

112

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13 August 2017

44

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13 August 2017

13615-13620

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describes a project that uses

13 August 2017

1 reference

10 June 2022

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/efetch.fcgi?db=pmc&rettype=xml&id=4640721

cites work

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Comparison of predicted and actual consequences of missense mutations

30 September 2017

1 reference

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Haplotype-resolved genome sequencing: experimental methods and applications

30 September 2017

1 reference

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Novel primary immunodeficiency candidate genes predicted by the human gene connectome

30 September 2017

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The genetics of neuropsychiatric diseases: looking in and beyond the exome

30 September 2017

1 reference

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Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants

30 September 2017

1 reference

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Recombination affects accumulation of damaging and disease-associated mutations in human populations

30 September 2017

1 reference

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Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios

30 September 2017

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COSMIC: exploring the world's knowledge of somatic mutations in human cancer

30 September 2017

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Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies

30 September 2017

1 reference

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Transcriptome sequencing from diverse human populations reveals differentiated regulatory architecture

30 September 2017

1 reference

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A framework for the interpretation of de novo mutation in human disease

30 September 2017

1 reference

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Discovery of single-gene inborn errors of immunity by next generation sequencing

30 September 2017

1 reference

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One gene, many neuropsychiatric disorders: lessons from Mendelian diseases.

30 September 2017

1 reference

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Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency

30 September 2017

1 reference

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HGCS: an online tool for prioritizing disease-causing gene variants by biological distance

30 September 2017

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A general framework for estimating the relative pathogenicity of human genetic variants

30 September 2017

1 reference

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A genomic portrait of the genetic architecture and regulatory impact of microRNA expression in response to infection

30 September 2017

1 reference

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The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

30 September 2017

1 reference

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Genic intolerance to functional variation and the interpretation of personal genomes

30 September 2017

1 reference

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Sequencing studies in human genetics: design and interpretation.

30 September 2017

1 reference

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Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia

30 September 2017

1 reference

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The human gene connectome as a map of short cuts for morbid allele discovery

30 September 2017

1 reference

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30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4640721

An integrated map of genetic variation from 1,092 human genomes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4640721

An integrated encyclopedia of DNA elements in the human genome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4640721

Disease gene identification strategies for exome sequencing

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4640721

Evolutionary genetic dissection of human interferons

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4640721

Non-coding RNAs in human disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4640721

KEGG for integration and interpretation of large-scale molecular data sets

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4640721

Exome sequencing as a tool for Mendelian disease gene discovery

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4640721

30 September 2017

Evolution and disorder

1 reference

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pROC: an open-source package for R and S+ to analyze and compare ROC curves

30 September 2017

1 reference

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Profiling by image registration reveals common origin of annelid mushroom bodies and vertebrate pallium

30 September 2017

1 reference

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4640721

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4640721

Integrative modeling defines the Nova splicing-regulatory network and its combinatorial controls

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4640721

A method and server for predicting damaging missense mutations

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4640721

Structural variation in the human genome and its role in disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4640721

Sequencing technologies - the next generation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4640721

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4640721

BioMart Central Portal--unified access to biological data

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4640721

Biopython: freely available Python tools for computational molecular biology and bioinformatics

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4640721

Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4640721

Local structural disorder imparts plasticity on linear motifs.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4640721

Orthologs, paralogs, and evolutionary genomics

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4640721

A comparison of the human and chimpanzee olfactory receptor gene repertoires

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4640721

Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4640721

How did alternative splicing evolve?

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4640721

Universality in intermediary metabolism

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4640721

Population differences in the human functional olfactory repertoire

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4640721

The ubiquitin-proteasome proteolytic pathway: destruction for the sake of construction

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4640721

Gene ontology: tool for the unification of biology

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4640721

Excess amino acid polymorphism in mitochondrial DNA: contrasts among genes from Drosophila, mice, and humans

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4640721

Detecting gene duplications in the human lineage.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4640721

Estimation of the neutrality index.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4640721

22 September 2018

Identifiers

DOI

10.1073/PNAS.1518646112

1 reference

13 August 2017

0 references

1 reference

13 August 2017

1 reference