(Q41972354)

14 October 2017

Targeted interrogation of copy number variation using SCIMMkit (English)

1 reference

14 October 2017

4

Deborah A Nickerson

1 reference

14 October 2017

3

Evan E Eichler

1 reference

14 October 2017

1

Troy Zerr

1 reference

14 October 2017

Gregory M Cooper

2

1 reference

PMCID

2796813

14 October 2017

language of work or name

English

0 references

publication date

21 October 2009

1 reference

14 October 2017

1 reference

14 October 2017

26

1 reference

14 October 2017

120-122

1 reference

14 October 2017

1

1 reference

A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease

14 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2796813

Genomic disorders ten years on.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2796813

Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2796813

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2796813

Extending genome-wide association studies to copy-number variation

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2796813

Systematic assessment of copy number variant detection via genome-wide SNP genotyping

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2796813

Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2796813

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2796813

Rare chromosomal deletions and duplications increase risk of schizophrenia

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2796813

Mapping and sequencing of structural variation from eight human genomes

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2796813

Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2796813

Strong association of de novo copy number mutations with autism

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2796813

Global variation in copy number in the human genome

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2796813

10.1093/BIOINFORMATICS/BTP606

5 June 2018

Identifiers

DOI

1 reference

journals/bioinformatics/ZerrCEN10

14 October 2017

1 reference

DBLP Dataset 2021-01-02

28 January 2021

1 reference

14 October 2017

1 reference

PMCID

2796813