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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 carriers and family size. Cascade testing in populations with the distribution of family size current in England and Wales...

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Source

Identifiers

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

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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