ReviewThe Journal of molecular diagnostics : JMD2004
Bayesian analysis and risk assessment in genetic counseling and testing.
Review in The Journal of molecular diagnostics : JMD, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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.
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
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 35 citations in OpenAlex.
- Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations.European journal of human genetics : EJHG · 2009Guideline
- A feasibility study to collect three generation family histories using a patient completed questionnaire provided by a family physician.Journal of community genetics · 2026Article
- Benchmarking five large language models in medical genetics: a bilingual comparative evaluation using published and novel expert-authored questions.Frontiers in medicine · 2026Article
- Flipping the Conditional: Why We Are Probably Wrong About Probabilities.Paediatric anaesthesia · 2025Review
- Ancestry, race and ethnicity: the role and relevance of language in clinical genetics practice.Journal of medical genetics · 2024Article
- Bayesian polygenic risk estimation approach to nuclear families with discordant sib-pairs for myelomeningocele.PloS one · 2024Article
- Understanding False Negative in Prenatal Testing.Diagnostics (Basel, Switzerland) · 2021Review
- Quantifying the potential of functional evidence to reclassify variants of uncertain significance in the categorical and Bayesian interpretation frameworks.Human mutation · 2018Article
- Bayesian Assessment of Genetic Risk in Families with a Balanced Translocation.Journal of genetic counseling · 2015Article
- Cardiovascular genetics: technological advancements and applicability for dilated cardiomyopathy.Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation · 2015Article
- Bayesian risk assessment in genetic testing for autosomal dominant disorders with age-dependent penetrance.Journal of genetic counseling · 2007Article
- Bayesian risk assessment for autosomal recessive diseases: fetal echogenic bowel with one or no detectable CFTR mutation.Journal of medical genetics · 2004Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Risk assessment is an essential component of genetic counseling and testing, and Bayesian analysis plays a central role in genetic risk assessment. Bayesian analysis allows calculation of the probability of a particular hypothesis, either disease or carrier status, based on family information and/or genetic test results. Genetic risk should be assessed as accurately as possible for family decision making. Additional information, from the pedigree and/or from genetic testing, can often dramatically improve the accuracy of genetic risk assessment. We illustrate herein the application of Bayes' theorem and describe important basic principles in genetic risk assessment.
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.