ArticleAnnals of human genetics2012
Shared genomic segment analysis: the power to find rare disease variants.
Article in Annals of human genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed.
- Mapping genetic susceptibility to spontaneous preterm birth: analysis of Utah pedigrees to find inherited genetic factors.American journal of obstetrics and gynecology · 2025Article
- Neurexin 1 variants as risk factors for suicide death.Molecular psychiatry · 2021Article
- Duo Shared Genomic Segment analysis identifies a genome-wide significant risk locus at 18q21.33 in myeloma pedigrees.Journal of translational genetics and genomics · 2021Article
- Shared genomic segment analysis in a large high-risk chronic lymphocytic leukemia pedigree implicatesJournal of translational genetics and genomics · 2021Article
- Genome-wide significant regions in 43 Utah high-risk families implicate multiple genes involved in risk for completed suicide.Molecular psychiatry · 2020Article
- Family Study Designs Informed by Tumor Heterogeneity and Multi-Cancer Pleiotropies: The Power of the Utah Population Database.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2020Article
- Rediscovering the value of families for psychiatric genetics research.Molecular psychiatry · 2019Review
- Lineage: Visualizing Multivariate Clinical Data in Genealogy Graphs.IEEE transactions on visualization and computer graphics · 2019Article
- Reparameterization of PAM50 Expression Identifies Novel Breast Tumor Dimensions and Leads to Discovery of a Genome-Wide Significant Breast Cancer Locus atCancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2018Article
- Novel pedigree analysis implicates DNA repair and chromatin remodeling in multiple myeloma risk.PLoS genetics · 2018Article
- Analysis of Shared Haplotypes amongst Palauans Maps Loci for Psychotic Disorders to 4q28 and 5q23-q31.Molecular neuropsychiatry · 2017Article
- FamPipe: An Automatic Analysis Pipeline for Analyzing Sequencing Data in Families for Disease Studies.PLoS computational biology · 2016Article
- Pairwise shared genomic segment analysis in three Utah high-risk breast cancer pedigrees.BMC genomics · 2012Article
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Authors and funding
8 authors.
Funding
Abstract
Shared genomic segment (SGS) analysis uses dense single nucleotide polymorphism genotyping in high-risk (HR) pedigrees to identify regions of sharing between cases. Here, we illustrate the power of SGS to identify dominant rare risk variants. Using simulated pedigrees, we consider 12 disease models based on disease prevalence, minor allele frequency and penetrance to represent disease loci that explain 0.2-99.8% of total disease risk. Pedigrees were required to contain ≥ 15 meioses between all cases and to be HR based on significant excess of disease (P < 0.001 or P < 0.00001). Across these scenarios, the power for a single pedigree ranged widely. Nonetheless, fewer than 10 pedigrees were sufficient for excellent power in the majority of models. Power increased with the risk attributable to the disease locus, penetrance and the excess of disease in the pedigree. Sharing allowing for one sporadic case was uniformly more powerful than sharing using all cases. Furthermore, an SGS analysis using a large attenuated familial adenomatous polyposis pedigree identified a 1.96 Mb region containing the known causal APC gene with genome-wide significance. SGS is a powerful method for detecting rare variants and a valuable complement to genome-wide association studies and linkage analysis.
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