(Q36950768)

17 August 2017

SG-ADVISER CNV: copy-number variant annotation and interpretation (English)

1 reference

17 August 2017

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25521334%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

author name string

Galina A Erikson

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25521334%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Neha Deshpande

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25521334%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Balachandar G Kesavan

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25521334%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

language of work or name

English

0 references

publication date

18 December 2014

1 reference

17 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25521334%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

volume

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25521334%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

issue

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25521334%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

page(s)

714-718

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25521334%20AND%20SRC:MED&resulttype=core&format=json

ClinVar: public archive of relationships among sequence variation and human phenotype

11 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4886732

Transmission disequilibrium of small CNVs in simplex autism

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4886732

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4886732

DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4886732

A copy number variation morbidity map of developmental delay

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4886732

Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4886732

CNVnator: an approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4886732

Discovery and genotyping of genome structural polymorphism by sequencing on a population scale

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4886732

Mapping copy number variation by population-scale genome sequencing

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4886732

COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4886732

De novo rates and selection of large copy number variation

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4886732

Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4886732

CNV Workshop: an integrated platform for high-throughput copy number variation discovery and clinical diagnostics

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4886732

Copy number variation in human health, disease, and evolution

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4886732

Strong association of de novo copy number mutations with sporadic schizophrenia

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4886732

PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4886732

Strong association of de novo copy number mutations with autism

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4886732

The impact of translocations and gene fusions on cancer causation

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4886732

Structural variation in the human genome

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4886732

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4886732

CNVannotator: a comprehensive annotation server for copy number variation in the human genome

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4886732

Human Gene Mutation Database: towards a comprehensive central mutation database

4 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FGIM.2014.180

21 January 2018

Identifiers

DOI

10.1038/GIM.2014.180

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25521334%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

11 June 2020

1011035330

0 references

Fatcat ID

release_vq77vb5ptfgmlkcttay5rigoue

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/vq77vb5ptfgmlkcttay5rigoue

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25521334%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

PubMed publication ID

25521334

1 reference