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 general approach to single-nucleotide polymorphism discovery.

Nature genetics - 1 Dec 1999

Marth G T, Korf I, Yandell M D, Yeh R T, Gu Z, Zakeri H, Stitziel N O, Hillier L, Kwok P Y, Gish W R

Abstract excerpt

Single-nucleotide polymorphisms (SNPs) are the most abundant form of human genetic variation and a resource for mapping complex genetic traits. The large volume of data produced by high-throughput sequencing projects is a rich and largely untapped source of SNPs (refs 2, 3, 4, 5). We present here a unified approach to the discovery of variations in genetic sequence data of arbitrary DNA sources. We propose to use...

Read the complete abstract on PubMed

Topics

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

Share to Algorithms
Share to Bayes Theorem
Share to Data Interpretation, Statistical

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Expressed Sequence Tags

Share to Genetic Techniques

Share to Genome, Human

Share to Sequence Alignment

Share to Software

Source

Identifiers

PMID: 10581034
DOI: 10.1038/70570

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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 general approach to single-nucleotide polymorphism discovery.PMID 10581034Read ↗

Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications.Semantic proximity Read ↗

Reliable identification of large numbers of candidate SNPs from public EST data.Semantic proximity Read ↗

A unified haplotype-based method for accurate and comprehensive variant callingSemantic proximity Read ↗

A beginners guide to SNP calling from high-throughput DNA-sequencing data.Semantic proximity Read ↗

A probabilistic approach for SNP discovery in high-throughput human resequencing data.Semantic proximity Read ↗

A SNP discovery method to assess variant allele probability from next-generation resequencing data.Semantic proximity Read ↗

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

Towards accurate detection and genotyping of expressed variants from whole transcriptome sequencing data.Semantic proximity Read ↗

QualitySNP: a pipeline for detecting single nucleotide polymorphisms and insertions/deletions in EST data from diploid and polyploid species.Semantic proximity Read ↗

PEMapper and PECaller provide a simplified approach to whole-genome sequencing.Semantic proximity Read ↗

A unified haplotype-based method for accurate and comprehensive variant calling.Semantic proximity Read ↗

An integrative variant analysis pipeline for accurate genotype/haplotype inference in population NGS data.Semantic proximity Read ↗

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