ArticleGenetics2011
Study designs for identification of rare disease variants in complex diseases: the utility of family-based designs.
Article in Genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
25 citing papers in PubMed, 38 citations in OpenAlex.
- The genomic landscape of familial glioma.Science advances · 2023Article
- Bayesian linear mixed model with multiple random effects for family-based genetic studies.Frontiers in genetics · 2023Article
- Deconstructing a Syndrome: Genomic Insights Into PCOS Causal Mechanisms and Classification.Endocrine reviews · 2022Article
- Powerful gene-based testing by integrating long-range chromatin interactions and knockoff genotypes.Proceedings of the National Academy of Sciences of the United States of America · 2021Article
- Identification of New Rare Variants Associated With Familial Autoimmune Thyroid Diseases by Deep Sequencing of Linked Loci.The Journal of clinical endocrinology and metabolism · 2021Article
- Whole-exome sequencing of 81 individuals from 27 multiply affected bipolar disorder families.Translational psychiatry · 2020Article
- Identification of novel sarcoma risk genes using a two-stage genome wide DNA sequencing strategy in cancer cluster families and population case and control cohorts.BMC medical genetics · 2019Article
- Robust and Powerful Affected Sibpair Test for Rare Variant Association.Genetic epidemiology · 2015Article
- Next-generation gene discovery for variants of large impact on lipid traits.Current opinion in lipidology · 2015Review
- Family-specific, novel, deleterious germline variants provide a rich resource to identify genetic predispositions for BRCAx familial breast cancer.BMC cancer · 2014Article
- LEVERAGING LOCAL IDENTITY-BY-DESCENT INCREASES THE POWER OF CASE/CONTROL GWAS WITH RELATED INDIVIDUALS.The annals of applied statistics · 2014Article
- Two-stage family-based designs for sequencing studies.BMC proceedings · 2014Article
- Adaptive combination of P-values for family-based association testing with sequence data.PloS one · 2014Article
- Two-phase and family-based designs for next-generation sequencing studies.Frontiers in genetics · 2013Review
- Family-based association tests for sequence data, and comparisons with population-based association tests.European journal of human genetics : EJHG · 2013Article
- Identification of novel variants in colorectal cancer families by high-throughput exome sequencing.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2013Article
- Familial cosegregation of rare genetic variants with disease in complex disorders.European journal of human genetics : EJHG · 2013Article
- PedWiz: a web-based tool for pedigree informatics.Frontiers in genetics · 2013Article
- Incremental value of rare genetic variants for the prediction of multifactorial diseases.Genome medicine · 2013Article
- MetaSeq: privacy preserving meta-analysis of sequencing-based association studies.Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing · 2013Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
The recent progress in sequencing technologies makes possible large-scale medical sequencing efforts to assess the importance of rare variants in complex diseases. The results of such efforts depend heavily on the use of efficient study designs and analytical methods. We introduce here a unified framework for association testing of rare variants in family-based designs or designs based on unselected affected individuals. This framework allows us to quantify the enrichment in rare disease variants in families containing multiple affected individuals and to investigate the optimal design of studies aiming to identify rare disease variants in complex traits. We show that for many complex diseases with small values for the overall sibling recurrence risk ratio, such as Alzheimer's disease and most cancers, sequencing affected individuals with a positive family history of the disease can be extremely advantageous for identifying rare disease variants. In contrast, for complex diseases with large values of the sibling recurrence risk ratio, sequencing unselected affected individuals may be preferable.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.