(Q36358463)

13 August 2017

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

1 reference

13 August 2017

0 references

9

1 reference

13 August 2017

11

1 reference

13 August 2017

Menachem Fromer

1

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Douglas M. Ruderfer

Douglas M Ruderfer

6

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Sarah E Bergen

Sarah E Bergen

5

0 references

Jennifer L. Moran

Jennifer L Moran

2

0 references

Christina M. Hultman

13

Christina M Hultman

1 reference

13 August 2017

12

Patrick F Sullivan

1 reference

13 August 2017

14

Pamela Sklar

1 reference

13 August 2017

Kimberly Chambert

3

1 reference

13 August 2017

Eric Banks

4

1 reference

13 August 2017

Robert E Handsaker

7

1 reference

13 August 2017

Steven A McCarroll

8

1 reference

13 August 2017

Michael J Owen

10

1 reference

13 August 2017

Shaun M Purcell

15

1 reference

13 August 2017

language of work or name

English

0 references

publication date

1 October 2012

1 reference

American Journal of Human Genetics

13 August 2017

1 reference

13 August 2017

91

1 reference

13 August 2017

597-607

1 reference

13 August 2017

4

1 reference

Modeling read counts for CNV detection in exome sequencing data

13 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484655

Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484655

Exome sequencing and the genetic basis of complex traits

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484655

Copy number variation detection and genotyping from exome sequence 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=3484655

Detection of structural variants and indels within exome 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=3484655

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484655

Performance comparison of exome DNA sequencing technologies

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484655

A copy number variation morbidity map of developmental delay

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484655

Exome sequencing-based copy-number variation and loss of heterozygosity detection: ExomeCNV

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484655

Accurate and exact CNV identification from targeted high-throughput sequence 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=3484655

A framework for variation discovery and genotyping using 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=3484655

Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484655

Analyzing and minimizing PCR amplification bias in Illumina sequencing libraries

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484655

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484655

Mapping copy number variation by population-scale genome 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=3484655

Exome sequencing: the sweet spot before whole 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=3484655

Challenges of sequencing 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=3484655

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared 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=3484655

The clinical context of copy number variation 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=3484655

Copy number variations and cancer susceptibility

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484655

Personalized copy number and segmental duplication maps using next-generation 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=3484655

Fast and accurate short read alignment with Burrows-Wheeler transform

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484655

Accurate whole human genome sequencing using reversible terminator chemistry

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484655

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484655

Large recurrent microdeletions associated with schizophrenia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484655

Rare chromosomal deletions and duplications increase risk of schizophrenia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484655

Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end 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=3484655

Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484655

PLINK: a tool set for whole-genome association and population-based linkage analyses

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484655

Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum 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=3484655

Segmental duplications and copy-number variation 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=3484655

Sensitive and accurate detection of copy number variants using read depth of coverage

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484655

10.1016/J.AJHG.2012.08.005

28 June 2018

Identifiers

DOI

1 reference

13 August 2017

1 reference

13 August 2017

1 reference