ReviewJournal of medical genetics2015
Case-only exome sequencing and complex disease susceptibility gene discovery: study design considerations.
Review in Journal of medical genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
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
19 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Pharmacologic Therapy of Diabetes and Overall Cancer Risk and Mortality: A Meta-Analysis of 265 Studies.Scientific reports · 2015 · on this mapPooled it
- Beyond susceptibility: do population-specific rare variants shape age at diagnosis in Korean inflammatory bowel disease?The Korean journal of internal medicine · 2026Article
- Population-specific rare variants influence age at diagnosis in Korean inflammatory bowel disease.The Korean journal of internal medicine · 2026Article
- The Causal Pivot: A structural approach to genetic heterogeneity and variant discovery in complex diseases.American journal of human genetics · 2025Article
- Citrullinemia type II accompanied by mental derangement combined with multidrug resistance 3 decrease, case report.Heliyon · 2023Article
- Case report: Genetic analysis of a novel intronic inversion variant in theFrontiers in genetics · 2023Article
- Article
- Development of vascular disease models to explore disease causation and pathomechanisms of rare vascular diseases.Seminars in immunopathology · 2022Review
- Variant Enrichment Analysis to Explore Pathways Functionality in Complex Autoinflammatory Skin Disorders through Whole Exome Sequencing Analysis.International journal of molecular sciences · 2022Article
- Genetic Epidemiology of Complex Phenotypes.Methods in molecular biology (Clifton, N.J.) · 2021Review
- Coding Variants Coupled With Rapid Modeling in Zebrafish Implicate Dynein Genes,Frontiers in cell and developmental biology · 2020Article
- Association score testing for rare variants and binary traits in family data with shared controls.Briefings in bioinformatics · 2019Article
- Monozygotic Twins Concordant for Common Variable Immunodeficiency: Strikingly Similar Clinical and Immune Profile Associated With a Polygenic Burden.Frontiers in immunology · 2019Article
- Genetic and experimental evidence for the involvement of the CD6 lymphocyte receptor in psoriasis.Cellular & molecular immunology · 2018Article
- Evidence from a familial case suggests maternal inheritance of primary biliary cholangitis.World journal of gastroenterology · 2017Article
- Discovery of Variants Underlying Host Susceptibility to Virus Infection Using Whole-Exome Sequencing.Methods in molecular biology (Clifton, N.J.) · 2017Article
- Systematic evaluation of underlying defects in DNA repair as an approach to case-only assessment of familial prostate cancer.Oncotarget · 2015Article
- Zinc transporter genes and urological cancers: integrated analysis suggests a role for ZIP11 in bladder cancer.Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine · 2015Article
- Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
Abstract
Whole exome sequencing (WES) provides an unprecedented opportunity to identify the potential aetiological role of rare functional variants in human complex diseases. Large-scale collaborations have generated germline WES data on patients with a number of diseases, especially cancer, but less often on healthy controls under the same sequencing procedures. These data can be a valuable resource for identifying new disease susceptibility loci if study designs are appropriately applied. This review describes suggested strategies and technical considerations when focusing on case-only study designs that use WES data in complex disease scenarios. These include variant filtering based on frequency and functionality, gene prioritisation, interrogation of different data types and targeted sequencing validation. We propose that if case-only WES designs were applied in an appropriate manner, new susceptibility genes containing rare variants for human complex diseases can be detected.
Indexed as
Identifiers
What OpenQuestion 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 OpenQuestion graph.