Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Is cascade testing a sensible method of screening a population for autosomal recessive disorders?

American journal of medical genetics. Part A - 30 Jul 2004

Morris J K, Law M R, Wald N J

Abstract excerpt

Our aim was to evaluate "cascade testing" as a method of screening a population for autosomal recessive disorders. We used computer simulations to estimate screening performance according to carrier frequency, whether testing would extend to siblings, first or second cousins of identified carrier...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Computer Simulation
Share to Family Characteristics
Share to Genes, Recessive

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Carrier Screening

Share to Genetic Predisposition to Disease

Share to Genetic Testing

Share to Siblings

Share to Software

Source

Identifiers

PMID: 15216548
DOI: 10.1002/ajmg.a.30024

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-15216548-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Is cascade testing a sensible method of screening a population for autosomal recessive disorders?PMID 15216548Read ↗

Estimating the efficacy and efficiency of cascade genetic screening.Semantic proximity Read ↗

Cascade health service use in family members following genetic testing in children: a scoping literature reviewSemantic proximity Read ↗

Active cascade testing for carriers of cystic fibrosis gene.Semantic proximity Read ↗

Cascade genetic testing for mismatch repair gene mutations.Semantic proximity Read ↗

Cost-effectiveness of cascade genetic testing for familial hypercholesterolemia in the United States: A simulation analysisSemantic proximity Read ↗

Probabilistic cost-effectiveness analysis of cascade screening for familial hypercholesterolaemia using alternative diagnostic and identification strategies.Semantic proximity Read ↗

On the testing load incurred by cascade genetic carrier screening for Mendelian disorders: a brief report.Semantic proximity Read ↗

Cascade screening for familial hypercholesterolaemia: implications of a pilot study for national screening programmes.Semantic proximity Read ↗

Reverse cascade screening of newborns for hereditary haemochromatosis: a model for other late onset diseases?Semantic proximity Read ↗

Reaching detection targets in familial hypercholesterolaemia: Comparison of identification strategies.Semantic proximity Read ↗

Cost-effectiveness of alternative cascade screening strategies for familial hypercholesterolemia with realistic cascade screening acceptance rates and use of novel treatment.Semantic proximity Read ↗

Universal screening at age 1-2 years as an adjunct to cascade testing for familial hypercholesterolaemia in the UK: A cost-utility analysis.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.