Modeling read counts for CNV detection in exome sequencing data (Q30574430)

14 August 2017

Modeling read counts for CNV detection in exome sequencing data (English)

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14 August 2017

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25 June 2017

Michael I Love

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Stefan Haas

object named as

Stefan A Haas

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6

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Martin Vingron

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5

object named as

Martin Vingron

1 reference

14 August 2017

3

Ruping Sun

1 reference

14 August 2017

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Alena Myšičková

1 reference

14 August 2017

8 November 2011

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Statistical Applications in Genetics and Molecular Biology

14 August 2017

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14 August 2017

10

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14 August 2017

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14 August 2017

1631-1636

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PMCID

3517018

maintained by WikiProject

14 August 2017

WikiProject Mathematics

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cites work

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1 reference

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Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

20 June 2018

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Comparison of three targeted enrichment strategies on the SOLiD sequencing platform

20 June 2018

1 reference

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Accurate and exact CNV identification from targeted high-throughput sequence data

20 June 2018

1 reference

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ReadDepth: a parallel R package for detecting copy number alterations from short sequencing reads

20 June 2018

1 reference

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Control-free calling of copy number alterations in deep-sequencing data using GC-content normalization

20 June 2018

1 reference

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A map of human genome variation from population-scale sequencing

20 June 2018

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Differential expression analysis for sequence count data

20 June 2018

1 reference

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CNAseg--a novel framework for identification of copy number changes in cancer from second-generation sequencing data.

20 June 2018

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Towards a comprehensive structural variation map of an individual human genome

20 June 2018

1 reference

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edgeR: a Bioconductor package for differential expression analysis of digital gene expression data

20 June 2018

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Computational methods for discovering structural variation with next-generation sequencing

20 June 2018

1 reference

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

20 June 2018

1 reference

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Personalized copy number and segmental duplication maps using next-generation sequencing.

20 June 2018

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

20 June 2018

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RazerS--fast read mapping with sensitivity control

20 June 2018

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Filter-based hybridization capture of subgenomes enables resequencing and copy-number detection

20 June 2018

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The consensus coding sequence (CCDS) project: Identifying a common protein-coding gene set for the human and mouse genomes

20 June 2018

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Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

20 June 2018

1 reference

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Evaluation of next generation sequencing platforms for population targeted sequencing studies

20 June 2018

1 reference

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CNV-seq, a new method to detect copy number variation using high-throughput sequencing

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3517018

High-resolution mapping of copy-number alterations with massively parallel sequencing

20 June 2018

1 reference

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Copy number variation and schizophrenia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3517018

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

20 June 2018

1 reference

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X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3517018

Strong association of de novo copy number mutations with autism

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3517018

A faster circular binary segmentation algorithm for the analysis of array CGH data

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3517018

Development of bioinformatics resources for display and analysis of copy number and other structural variants in the human genome.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3517018

BioHMM: a heterogeneous hidden Markov model for segmenting array CGH data

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3517018

The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3517018

Bioconductor: open software development for computational biology and bioinformatics

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3517018

A tutorial on hidden Markov models and selected applications in speech recognition

20 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.2202%2F1544-6115.1732

Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.2202%2F1544-6115.1732

Position effect in human genetic disease

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23089826

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.2202/1544-6115.1732

1 reference

14 August 2017

1 reference

14 August 2017

1 reference

PMCID

3517018