Accurate detection and genotyping of SNPs utilizing population sequencing data.

doi:10.1101/gr.100040.109

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

Topics Community

Back to search

Article

Accurate detection and genotyping of SNPs utilizing population sequencing data.

Genome research - 1 Apr 2010

Bansal Vikas, Harismendy Olivier, Tewhey Ryan, Murray Sarah S, Schork Nicholas J, Topol Eric J, Frazer Kelly A

Abstract excerpt

Next-generation sequencing technologies have made it possible to sequence targeted regions of the human genome in hundreds of individuals. Deep sequencing represents a powerful approach for the discovery of the complete spectrum of DNA sequence variants in functionally important genomic intervals. Current methods for single nucleotide polymorphism (SNP) detection are designed to detect SNPs from single individual...

Topics

Base Sequence
Chromosomes, Human, Pair 9
Data Collection
False Positive Reactions
Gene Expression Profiling
Genetics, Population
Genome, Human
Genome-Wide Association Study
Genotype
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Information Storage and Retrieval

Meta-Analysis as Topic

Molecular Sequence Data

Oligonucleotide Array Sequence Analysis

Polymorphism, Single Nucleotide

Reproducibility of Results

Sequence Analysis, DNA

Validation Studies as Topic

Source

Open in PubMed Open full text

Identifiers

PMID: 20150320
DOI: 10.1101/gr.100040.109
PMCID: PMC2847757

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Accurate detection and genotyping of SNPs utilizing population sequencing data.PMID 20150320Read ↗

Quantification of rare allelic variants from pooled genomic DNA.Semantic proximity Read ↗

A fast and accurate SNP detection algorithm for next-generation sequencing data.Semantic proximity Read ↗

High-throughput discovery of rare insertions and deletions in large cohorts.Semantic proximity Read ↗

Using genetic variation to study human disease.Semantic proximity Read ↗

A probabilistic method for the detection and genotyping of small indels from population-scale sequence data.Semantic proximity Read ↗

A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data.Semantic proximity Read ↗

Precise detection of de novo single nucleotide variants in human genomes.Semantic proximity Read ↗

A statistical method for the detection of variants from next-generation resequencing of DNA pools.Semantic proximity Read ↗

SNVer: a statistical tool for variant calling in analysis of pooled or individual next-generation sequencing data.Semantic proximity Read ↗

Single-molecule sequencing of an individual human genome.Semantic proximity Read ↗

Genomic loci susceptible to systematic sequencing bias in clinical whole genomes.Semantic proximity Read ↗

Evaluation of next generation sequencing platforms for population targeted sequencing studies.Semantic proximity Read ↗

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