ArticleAmerican journal of human genetics2007
Homozygosity haplotype allows a genomewide search for the autosomal segments shared among patients.
Article in American journal of human genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
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Who cites it
34 citing papers in PubMed.
- CGG repeat expansion in LRP12 in amyotrophic lateral sclerosis.American journal of human genetics · 2023Article
- Homozygosity Haplotype and Whole-Exome Sequencing Analysis to Identify Potentially Functional Rare Variants Involved in Multiple Sclerosis among Sardinian Families.Current issues in molecular biology · 2021Article
- Obelisc: an identical-by-descent mapping tool based on SNP streak.Bioinformatics (Oxford, England) · 2021Article
- Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease.Nature genetics · 2019Article
- Common origin of the gelsolin gene variant in 62 Finnish AGel amyloidosis families.European journal of human genetics : EJHG · 2018Article
- A commonJournal of medical genetics · 2017Article
- Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus.Scientific reports · 2017Article
- Benign Yellow Dot Maculopathy: A New Macular Phenotype.Ophthalmology · 2017Observational
- Exome sequencing identifies a novel UNC5D mutation in a severe myopic anisometropia family: A case report.Medicine · 2017Article
- A novel mutation in the AGXT gene causing primary hyperoxaluria type I: genotype-phenotype correlation.Journal of genetics · 2016Article
- FamPipe: An Automatic Analysis Pipeline for Analyzing Sequencing Data in Families for Disease Studies.PLoS computational biology · 2016Article
- Atypical parkinsonism caused by Pro105Leu mutation of prion protein: A broad clinical spectrum.Neurology. Genetics · 2016Article
- Expanding the Spectrum of Founder Mutations Causing Isolated Gonadotropin-Releasing Hormone Deficiency.The Journal of clinical endocrinology and metabolism · 2015Article
- HaploShare: identification of extended haplotypes shared by cases and evaluation against controls.Genome biology · 2015Article
- Methods for collapsing multiple rare variants in whole-genome sequence data.Genetic epidemiology · 2014Article
- Clinical features and haplotype analysis of newly identified Japanese patients with gelsolin-related familial amyloidosis of Finnish type.Neurogenetics · 2012Article
- Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concerns.Genome medicine · 2012Review
- Identification of FGF7 as a novel susceptibility locus for chronic obstructive pulmonary disease.Thorax · 2011Article
- Human genetics and genomics a decade after the release of the draft sequence of the human genome.Human genomics · 2011Review
- Regions of homozygosity and their impact on complex diseases and traits.Human genetics · 2011Review
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11 authors.
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Abstract
A promising strategy for identifying disease susceptibility genes for both single- and multiple-gene diseases is to search patients' autosomes for shared chromosomal segments derived from a common ancestor. Such segments are characterized by the distinct identity of their haplotype. The methods and algorithms currently available have only a limited capability for determining a high-resolution haplotype genomewide. We herein introduce the homozygosity haplotype (HH), a haplotype described by the homozygous SNPs that are easily obtained from high-density SNP genotyping data. The HH represents haplotypes of both copies of homologous autosomes, allowing for direct comparisons of the autosomes among multiple patients and enabling the identification of the shared segments. The HH successfully detected the shared segments from members of a large family with Marfan syndrome, which is an autosomal dominant, single-gene disease. It also detected the shared segments from patients with model multigene diseases originating with common ancestors who lived 10-25 generations ago. The HH is therefore considered to be useful for the identification of disease susceptibility genes in both single- and multiple-gene diseases.
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