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

A comparative investigation of single nucleotide variant calling for a personal non-Caucasian sequencing sample.

Genes & genomics - 1 Dec 2023

Park HyeonSeul, Gim JungSoo

Abstract excerpt

BACKGROUND: Dropping cost and increasing clinical application of whole genome sequencing (WGS) lead a necessity of efficient (accurate and rapid) variant calling procedures from a personal WGS data (n = 1). A number of variant calling pipelines have been introduced utilizing the human genome reference GRCh38 as a reference and a benchmark dataset called 'NA12878', which are both 'standard' but limited ethnic...

Read the complete abstract on PubMed

Topics

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

Share to Genotype
Share to High-Throughput Nucleotide Sequencing
Share to Nucleotides

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Polymorphism, Single Nucleotide

Share to Whole Genome Sequencing

Source

Identifiers

PMID: 37651066
DOI: 10.1007/s13258-023-01439-w

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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

A comparative investigation of single nucleotide variant calling for a personal non-Caucasian sequencing sample.PMID 37651066Read ↗

Accuracy and efficiency of germline variant calling pipelines for human genome dataSemantic proximity Read ↗

Variant callers for next-generation sequencing data: a comparison study.Semantic proximity Read ↗

Validation and assessment of variant calling pipelines for next-generation sequencing.Semantic proximity Read ↗

Fast and accurate DNASeq Variant Calling workflow composed of LUSH toolkitSemantic proximity Read ↗

Systematic comparison of variant calling pipelines using gold standard personal exome variants.Semantic proximity Read ↗

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

Ethnically relevant consensus Korean reference genome towards personal reference genomesSemantic proximity Read ↗

Revising a personal genome by comparing and combining data from two different sequencing platforms.Semantic proximity Read ↗

Performance Assessment of Variant Calling Pipelines using Human Whole Exome Sequencing and Simulated dataSemantic proximity Read ↗

Korean Variant Archive (KOVA): a reference database of genetic variations in the Korean population.Semantic proximity Read ↗

An efficient and tunable parameter to improve variant calling for whole genome and exome sequencing data.Semantic proximity Read ↗

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

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