Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Using XHMM Software to Detect Copy Number Variation in Whole‐Exome Sequencing Data

1 Apr 2014

Abstract excerpt

Copy number variation (CNV) has emerged as an important genetic component in human diseases, which are increasingly being studied for large numbers of samples by sequencing the coding regions of the genome, i.e., exome sequencing. Nonetheless, detecting this variation from such targeted sequencing data is a difficult task, involving sorting out signal from noise, for which we have recently developed a set of...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Genetic factors in colorectal cancer
Share to Genomic variations and chromosomal abnormalities
Share to Genomics and Rare Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 24763994
DOI: 10.1002/0471142905.hg0723s81

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Using XHMM Software to Detect Copy Number Variation in Whole‐Exome Sequencing DataPMID 24763994Read ↗

An evaluation of copy number variation detection tools from whole-exome sequencing data.Semantic proximity Read ↗

EXCAVATOR: detecting copy number variants from whole-exome sequencing data.Semantic proximity Read ↗

Identification of copy number variants from exome sequence data.Semantic proximity Read ↗

Detection of homozygous and hemizygous partial exon deletions by whole-exome sequencingSemantic proximity Read ↗

Computational tools for copy number variation (CNV) detection using next-generation sequencing data: features and perspectives.Semantic proximity Read ↗

Identification of Copy Number Variants from SNP Arrays Using PennCNV.Semantic proximity Read ↗

Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth.Semantic proximity Read ↗

XCAVATOR: accurate detection and genotyping of copy number variants from second and third generation whole-genome sequencing experiments.Semantic proximity Read ↗

A machine-learning approach for accurate detection of copy-number variants from exome sequencingSemantic proximity Read ↗

Assessing the reproducibility of exome copy number variations predictions.Semantic proximity Read ↗

Exome sequencing-based copy-number variation and loss of heterozygosity detection: ExomeCNV.Semantic proximity Read ↗

An enhanced method for targeted next generation sequencing copy number variant detection using ExomeDepthSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.