ReviewHuman genetics2012
The role of large pedigrees in an era of high-throughput sequencing.
Review in Human genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 66 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
66 citing papers in PubMed.
- f-treeGC: a questionnaire-based family tree-creation software for genetic counseling and genome cohort studies.BMC medical genetics · 2017Trial
- X chromosome-wide association studies for quantitative trait loci based on the mixture of general pedigrees and additional unrelated individuals.Briefings in bioinformatics · 2026Article
- Sharing approaches in predictive genomics across animals, plants and humans.Nature genetics · 2026Review
- Genetic and Molecular Determinants of Familial Transmission of Skeletal Malocclusions.Orthodontics & craniofacial research · 2025Review
- Adjustment for Genotype Imputation Uncertainty Corrects for Inflated Type I Error in Family-Based Association Testing.Genetic epidemiology · 2025Article
- A Rare Variant inCancers · 2023Article
- Familial Associations of Prevalence and Cause-Specific Mortality for Thoracic Aortic Disease and Bicuspid Aortic Valve in a Large-Population Database.Circulation · 2023Observational
- High-Risk Pedigree Study IdentifiesCancers · 2023Article
- Deconstructing a Syndrome: Genomic Insights Into PCOS Causal Mechanisms and Classification.Endocrine reviews · 2022Article
- Open problems in human trait genetics.Genome biology · 2022Review
- Analysis of high-risk pedigrees identifies 11 candidate variants for Alzheimer's disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2022Article
- Involvement of Rare Mutations of SCN9A, DPP4, ABCA13, and SYT14 in Schizophrenia and Bipolar Disorder.International journal of molecular sciences · 2021Article
- Identification of a Rare Novel KMT2C Mutation That Presents with Schizophrenia in a Multiplex Family.Journal of personalized medicine · 2021Article
- An intronic variant in the CELF4 gene is associated with risk for colorectal cancer.Cancer epidemiology · 2021Article
- A Rare Variant inCancers · 2021Article
- A linkage and exome study of multiplex families with bipolar disorder implicates rare coding variants of ANK3 and additional rare alleles at 10q11-q21.Journal of psychiatry & neuroscience : JPN · 2021Article
- Genome-wide analysis of high-risk primary brain cancer pedigrees identifies PDXDC1 as a candidate brain cancer predisposition gene.Neuro-oncology · 2021Article
- UsingDevelopment (Cambridge, England) · 2020Review
- SimRVSequences: an R package to simulate genetic sequence data for pedigrees.Bioinformatics (Oxford, England) · 2020Article
- Next Generation Sequencing and Bioinformatics Analysis of Family Genetic Inheritance.Frontiers in genetics · 2020Review
6 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author.
Funding
Abstract
Rare variation is the current frontier in human genetics. The large pedigree design is practical, efficient, and well-suited for investigating rare variation. In large pedigrees, specific rare variants that co-segregate with a trait will occur in sufficient numbers so that effects can be measured, and evidence for association can be evaluated, by making use of methods that fully use the pedigree information. Evidence from linkage analysis can focus investigation, both reducing the multiple testing burden and expanding the variants that can be evaluated and followed up, as recent studies have shown. The large pedigree design requires only a small fraction of the sample size needed to identify rare variants of interest in population-based designs, and many highly suitable, well-understood, and available statistical and computational tools already exist. Samples consisting of large pedigrees with existing rich phenotype and genome scan data should be prime candidates for high-throughput sequencing in the search of the determinants of complex traits.
Indexed as
Identifiers
What Socratic holds
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 Socratic graph.