Article

On enhancing variation detection through pan-genome indexing

2015-06-25

Abstract excerpt

<h4>ABSTRACT</h4> Detection of genomic variants is commonly conducted by aligning a set of reads sequenced from an individual to the reference genome of the species and analyzing the resulting read pileup . Typically, this process finds a subset of variants already reported in databases and additional novel variants characteristic to the sequenced individual. Most of the effort in the literature has been put to...

Topics

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

Identifiers and source

Literature Corpus work: 35781f4a-ff81-5c3f-84bf-77e0dddf5c90
DOI: 10.1101/021444

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

On enhancing variation detection through pan-genome indexingDOI 10.1101/021444Read

PanVariants: Best Practice for Pangenome-based Variant Calling Pipeline and FrameworkSemantic proximity Read

Towards pan-genome read alignment to improve variation calling.Semantic proximity Read

A novel multi-alignment pipeline for high-throughput sequencing data.Semantic proximity Read

Sequence variation aware genome references and read mapping with the variation graph toolkitSemantic proximity Read

PISAD: reference-free intraspecies sample anomalies detection tool based on k-mer counting.Semantic proximity Read

Population-scale detection of non-reference sequence variants using colored de Bruijn GraphsSemantic proximity Read

Improving the Power of Structural Variation Detection by Augmenting the ReferenceSemantic proximity Read

Pandora: nucleotide-resolution bacterial pan-genomics with reference graphs.Semantic proximity Read

Personalized pangenome references.Semantic proximity Read

Population-specific genome graphs improve high-throughput sequencing data analysis: A case study on the Pan-African genomeSemantic proximity Read

Pairwise graph edit distance characterizes the impact of the construction method on pangenome graphsSemantic proximity Read

Personalized Pangenome ReferencesSemantic proximity Read