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

KinSNP software for homozygosity mapping of disease genes using SNP microarrays.

Human genomics - 1 Aug 2010

Amir El-Ad David, Bartal Ofer, Morad Efrat, Nagar Tal, Sheynin Jony, Parvari Ruti, Chalifa-Caspi Vered

Abstract excerpt

Consanguineous families affected with a recessive genetic disease caused by homozygotisation of a mutation offer a unique advantage for positional cloning of rare diseases. Homozygosity mapping of patient genotypes is a powerful technique for the identification of the genomic locus harbouring the causing mutation. This strategy relies on the observation that in these patients a large region spanning the disease...

Read the complete abstract on PubMed

Topics

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

Share to Algorithms
Share to Chromosomes, Human
Share to Computational Biology

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Disease

Share to Genome, Human

Share to Internet

Share to Oligonucleotide Array Sequence Analysis

Share to Software

Source

Open in PubMed Open full text

Identifiers

PMID: 20846928
DOI: 10.1186/1479-7364-4-6-394
PMCID: PMC3525221

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

KinSNP software for homozygosity mapping of disease genes using SNP microarrays.PMID 20846928Read ↗

HomozygosityMapper--an interactive approach to homozygosity mapping.Semantic proximity Read ↗

A clinical evaluation tool for SNP arrays, especially for autosomal recessive conditions in offspring of consanguineous parents.Semantic proximity Read ↗

HomozygosityMapper2012--bridging the gap between homozygosity mapping and deep sequencing.Semantic proximity Read ↗

Detecting regions of homozygosity to map the cause of recessively inherited disease.Semantic proximity Read ↗

AutozygosityMapper: Identification of disease-mutations in consanguineous families.Semantic proximity Read ↗

AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data.Semantic proximity Read ↗

Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencing.Semantic proximity Read ↗

A simple and efficient algorithm for genome-wide homozygosity analysis in disease.Semantic proximity Read ↗

Beyond Homozygosity Mapping: Family-Control analysis based on Hamming distance for prioritizing variants in exome sequencing.Semantic proximity Read ↗

HomSI: a homozygous stretch identifier from next-generation sequencing data.Semantic proximity Read ↗

Regions of homozygosity identified by SNP microarray analysis aid in the diagnosis of autosomal recessive disease and incidentally detect parental blood relationships.Semantic proximity Read ↗

Homozygosity mapping on a single patient: identification of homozygous regions of recent common ancestry by using population data.Semantic proximity Read ↗

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