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

Simulation of African and non-African low and high coverage whole genome sequence data to assess variant calling approaches.

Briefings in bioinformatics - 20 Jul 2021

Alosaimi Shatha, van Biljon Noëlle, Awany Denis, Thami Prisca K, Defo Joel, Mugo Jacquiline W, Bope Christian D, Mazandu Gaston K, Mulder Nicola J, Chimusa Emile R

Abstract excerpt

Current variant calling (VC) approaches have been designed to leverage populations of long-range haplotypes and were benchmarked using populations of European descent, whereas most genetic diversity is found in non-European such as Africa populations. Working with these genetically diverse populations, VC tools may produce false positive and false negative results, which may produce misleading conclusions in...

Read the complete abstract on PubMed

Topics

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

Share to Black People
Share to Databases, Nucleic Acid

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Variation

Share to Genome, Human

Share to Linkage Disequilibrium

Share to White People

Share to Whole Genome Sequencing

Source

Open in PubMed Open full text

Identifiers

PMID: 33341897
DOI: 10.1093/bib/bbaa366
PMCID: PMC8294538

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Simulation of African and non-African low and high coverage whole genome sequence data to assess variant calling approaches.PMID 33341897Read ↗

ReliableGenome: annotation of genomic regions with high/low variant calling concordance.Semantic proximity Read ↗

Structural variation landscape of Middle Eastern and North African individuals from long-read nanopore sequencing reveals medically relevant variantsSemantic proximity Read ↗

Low-coverage sequencing cost-effectively detects known and novel variation in underrepresented populations.Semantic proximity Read ↗

High-depth African genomes inform human migration and health.Semantic proximity Read ↗

Systematic benchmark of state-of-the-art variant calling pipelines identifies major factors affecting accuracy of coding sequence variant discoverySemantic proximity Read ↗

The African Genome Variation Project shapes medical genetics in Africa.Semantic proximity Read ↗

Comparison of variant callers using 60 532 multi-ancestry whole genome sequences.Semantic proximity Read ↗

Evaluating the performance of low-frequency variant calling tools for the detection of variants from short-read deep sequencing data.Semantic proximity Read ↗

Population genetics: the African Genome Variation Project.Semantic proximity Read ↗

Assessing single nucleotide variant detection and genotype calling on whole-genome sequenced individuals.Semantic proximity Read ↗

Systematic benchmark of state-of-the-art variant calling pipelines identifies major factors affecting accuracy of coding sequence variant discovery.Semantic proximity Read ↗

A benchmark of structural variation detection by long reads through a realistic simulated modelSemantic proximity Read ↗

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