Article

Sequence variation of copy number variable regions in the human genome

2020-01-01

Abstract excerpt

Accurate genotyping of sequence variation in repeated and copy number variable regions of genomes remains challenging, because of the problems inherent in mapping short sequence reads to a reference genome. A computational pipeline was designed to attempt to resolve the short-read mapping ambiguity for duplicated DNA regions mapping short-reads to reference sequence comprising of a single copy of a region repeated...

Topics

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

Identifiers and source

Literature Corpus work: c81bc86f-8cbc-5617-8d8e-8af5b48b0b05
DOI: 10.25392/leicester.data.12696608.v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Sequence variation of copy number variable regions in the human genomeDOI 10.25392/leicester.data.12696608.v1Read

Accurate, high-throughput typing of copy number variation using paralogue ratios from dispersed repeats.Semantic proximity Read

Copy Number Variation in Common DiseaseSemantic proximity Read

A commentary on implication of gene copy number variation in health and diseases.Semantic proximity Read

Copy number variation of Fc gamma receptor genes and disease predisposition.Semantic proximity Read

Worldwide genetic variation of the IGHV and TRBV immune receptor gene families in humansSemantic proximity Read

High-throughput Interpretation of Killer-cell Immunoglobulin-like Receptor Short-read Sequencing Data with PINGSemantic proximity Read

Estimating Copy Number and Allelic Variation at the Immunoglobulin Heavy Chain Locus Using Short Reads.Semantic proximity Read

Allelic recombination between distinct genomic locations generates copy number diversity in human beta-defensins.Semantic proximity Read

GtTR: Bayesian estimation of absolute tandem repeat copy number using sequence capture and high throughput sequencingSemantic proximity Read

Detecting copy number variation in the human genome using comparative genomic hybridization.Semantic proximity Read

Gene copy-number polymorphism caused by retrotransposition in humans.Semantic proximity Read

Genome-wide Association of Copy-Number Variation Reveals an Association between Short Stature and the Presence of Low-Frequency Genomic DeletionsSemantic proximity Read