Article

CrowdVariant: a crowdsourcing approach to classify copy number variants

2016-12-13

Abstract excerpt

Copy number variants (CNVs) are an important type of genetic variation and play a causal role in many diseases. However, they are also notoriously difficult to identify accurately from next-generation sequencing (NGS) data. For larger CNVs, genotyping arrays provide reasonable benchmark data, but NGS allows us to assay a far larger number of small (< 10kbp) CNVs that are poorly captured by array-based methods. The...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 53d98fb0-2814-5c5f-a05c-77de5bb7f7be
DOI: 10.1101/093526

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

CrowdVariant: a crowdsourcing approach to classify copy number variantsDOI 10.1101/093526Read

A crowdsourcing database for the copy-number variation of the Spanish population.Semantic proximity Read

SVCurator: A Crowdsourcing app to visualize evidence of structural variants for the human genomeSemantic proximity Read

Combining accurate tumour genome simulation with crowd-sourcing to benchmark somatic structural variant detectionSemantic proximity Read

Targeted interrogation of copy number variation using SCIMMkit.Semantic proximity Read

CNValidatron: Accurate And Efficient Validation of PennCNV Calls Using Computer VisionSemantic proximity Read

CNPI: Rapid Analyses of Human Copy Number Data.Semantic proximity Read

Benchmarking scRNA-seq copy number variation callersSemantic proximity Read

CHALLENGER: Detecting Copy Number Variants in Challenging Regions Using Whole Genome Sequencing DataSemantic proximity Read

EnsembleCNV: An ensemble machine learning algorithm to identify and genotype copy number variation using SNP array dataSemantic proximity Read

DNA.Land: A digital biobank using a massive crowdsourcing approachSemantic proximity Read

Performance assessment of copy number microarray platforms using a spike-in experiment.Semantic proximity Read

An accurate and powerful method for copy number variation detectionSemantic proximity Read