(Q37297685)

19 August 2017

Patterns of genic intolerance of rare copy number variation in 59,898 human exomes (English)

1 reference

19 August 2017

Mark J Daly

8

0 references

Kaitlin E Samocha

object named as

Kaitlin E Samocha

6

0 references

Douglas M. Ruderfer

object named as

Douglas M Ruderfer

1

0 references

author name string

Tymor Hamamsy

2

1 reference

19 August 2017

Monkol Lek

3

1 reference

19 August 2017

Konrad J Karczewski

4

1 reference

19 August 2017

David Kavanagh

5

1 reference

19 August 2017

Exome Aggregation Consortium

7

1 reference

19 August 2017

Daniel G MacArthur

9

1 reference

19 August 2017

Menachem Fromer

10

1 reference

19 August 2017

Shaun M Purcell

11

1 reference

19 August 2017

language of work or name

English

0 references

publication date

17 August 2016

1 reference

19 August 2017

1 reference

19 August 2017

48

1 reference

19 August 2017

10

1 reference

19 August 2017

1107-1111

1 reference

https://scigraph.springernature.com/pub.10.1038/ng.3638

19 August 2017

0 references

cites work

An integrated map of structural variation in 2,504 human genomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5042837

Identification of a large set of rare complete human knockouts

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5042837

A copy number variation map of the human genome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5042837

Large multiallelic copy number variations in humans

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5042837

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5042837

Copy number variation in schizophrenia in Sweden

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5042837

A polygenic burden of rare disruptive mutations in schizophrenia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5042837

De novo mutations in schizophrenia implicate synaptic networks

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5042837

Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5042837

CEG: a database of essential gene clusters.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5042837

Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5042837

Genic intolerance to functional variation and the interpretation of personal genomes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5042837

Genome-wide association analysis identifies 13 new risk loci for schizophrenia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5042837

Selection and adaptation in the human genome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5042837

Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5042837

A robust model for read count data in exome sequencing experiments and implications for copy number variant calling

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5042837

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5042837

De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5042837

Enrichment map: a network-based method for gene-set enrichment visualization and interpretation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5042837

Characterising and predicting haploinsufficiency in the human genome.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5042837

Origins and functional impact of copy number variation in the human genome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5042837

Mechanisms of change in gene copy number

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5042837

ToppGene Suite for gene list enrichment analysis and candidate gene prioritization

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5042837

A genome-wide investigation of SNPs and CNVs in schizophrenia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5042837

Population analysis of large copy number variants and hotspots of human genetic disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5042837

Contemplating effects of genomic structural variation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5042837

Integrated detection and population-genetic analysis of SNPs and copy number variation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5042837

Mapping and sequencing of structural variation from eight human genomes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5042837

Global variation in copy number in the human genome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5042837

Structural variation in the human genome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5042837

Distribution and intensity of constraint in mammalian genomic sequence

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5042837

Detection of large-scale variation in the human genome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5042837

Large-scale copy number polymorphism in the human genome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5042837

A cytogenetic survey of an institution for the mentally retarded: I. Chromosome abnormalities

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5042837

Increased female autosomal burden of rare copy number variants in human populations and in autism families.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5042837

Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits

26 June 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27533299

12 December 2020

inferred from PubMed ID database lookup

The somatic chromosomes in mongolism

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27533299

12 December 2020

inferred from PubMed ID database lookup

Chromosomic diagnosis of mongolism

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27533299

12 December 2020

inferred from PubMed ID database lookup

Analysis of protein-coding genetic variation in 60,706 humans

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNG.3638

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1038/NG.3638

1 reference

19 August 2017

1 reference

19 August 2017

PubMed publication ID

27533299

1 reference