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

Detecting disease-causing mutations in the human genome by haplotype matching.

American journal of human genetics - 1 Nov 2006

Spencer David H, Bubb Kerry L, Olson Maynard V

Abstract excerpt

Comparisons between haplotypes from affected patients and the human reference genome are frequently used to identify candidates for disease-causing mutations, even though these alignments are expected to reveal a high level of background neutral polymorphism. This limits the scope of genetic studies to relatively small genomic intervals, because current methods for distinguishing potential causal mutations from...

Read the complete abstract on PubMed

Topics

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

Share to Computer Simulation
Share to Databases, Genetic
Share to Genetic Diseases, Inborn

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Genome, Human

Share to Genomics

Share to Haplotypes

Share to Models, Genetic

Share to Recombination, Genetic

Source

Open in PubMed Open full text

Identifiers

PMID: 17033972
DOI: 10.1086/508757
PMCID: PMC1698563

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. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Detecting disease-causing mutations in the human genome by haplotype matching.PMID 17033972Read ↗

Discriminating somatic and germline mutations in tumor DNA samples without matching normals.Semantic proximity Read ↗

Genome-wide analysis of human disease alleles reveals that their locations are correlated in paralogous proteins.Semantic proximity Read ↗

Evidence for hitchhiking of deleterious mutations within the human genome.Semantic proximity Read ↗

Phasing for medical sequencing using rare variants and large haplotype reference panels.Semantic proximity Read ↗

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

On the probability that a novel variant is a disease-causing mutation.Semantic proximity Read ↗

Estimating the genome-wide mutation rate from thousands of unrelated individuals.Semantic proximity Read ↗

Screening for recently selected alleles by analysis of human haplotype similarity.Semantic proximity Read ↗

Proportionally more deleterious genetic variation in European than in African populations.Semantic proximity Read ↗

Haplotype sharing analysis in affected individuals from nuclear families with at least one affected offspring.Semantic proximity Read ↗

Haplotype-based methods for detecting uncommon causal variants with common SNPs.Semantic proximity Read ↗

Detecting multiple variants associated with disease based on sequencing data of case-parent trios.Semantic proximity Read ↗

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