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

Allelic decomposition and exact genotyping of highly polymorphic and structurally variant genes.

Nature communications - 26 Feb 2018

Numanagić Ibrahim, Malikić Salem, Ford Michael, Qin Xiang, Toji Lorraine, Radovich Milan, Skaar Todd C, Pratt Victoria M, Berger Bonnie, Scherer Steve, Sahinalp S Cenk

Abstract excerpt

High-throughput sequencing provides the means to determine the allelic decomposition for any gene of interest-the number of copies and the exact sequence content of each copy of a gene. Although many clinically and functionally important genes are highly polymorphic and have undergone structural alterations, no high-throughput sequencing data analysis tool has yet been designed to effectively solve the full...

Read the complete abstract on PubMed

Topics

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

Share to Chromosome Mapping
Share to Cytochrome P-450 CYP2D6

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Copy Number Variations

Share to Genome, Human

Share to Genotyping Techniques

Share to High-Throughput Nucleotide Sequencing

Share to Isoenzymes

Share to Software

Source

Open in PubMed Open full text

Identifiers

PMID: 29483503
DOI: 10.1038/s41467-018-03273-1
PMCID: PMC5826927

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Allelic decomposition and exact genotyping of highly polymorphic and structurally variant genes.PMID 29483503Read ↗

An efficient genotyper and star-allele caller for pharmacogenomics.Semantic proximity Read ↗

Aldy 4: An efficient genotyper and star-allele caller for pharmacogenomicsSemantic proximity Read ↗

Gene-wise variant burden and genomic characterization of nearly every gene.Semantic proximity Read ↗

Application of long-read sequencing to elucidate complex pharmacogenomic regions: a proof of principle.Semantic proximity Read ↗

Reduction of next-generation sequencing files for efficient pharmacogenotype extraction.Semantic proximity Read ↗

Targeted adaptive sampling enables clinical pharmacogenomics testing and genome-wide genotypingSemantic proximity Read ↗

The star-allele nomenclature: retooling for translational genomics.Semantic proximity Read ↗

Locityper: targeted genotyping of complex polymorphic genesSemantic proximity Read ↗

Analytical Validation of a Computational Method for Pharmacogenetic Genotyping from Clinical Whole Exome Sequencing.Semantic proximity Read ↗

Genome complexity reduction for SNP genotyping analysis.Semantic proximity Read ↗

Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, CYP2D6, from whole-genome sequencesSemantic proximity Read ↗

aScan: A Novel Method for the Study of Allele Specific Expression in Single Individuals.Semantic proximity Read ↗

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