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- W2081719488 abstract "Current clinical diagnostic techniques for the detection of small duplications and deletions include microscopic cytogenetics with Giemsa banding and FISH. An alternative approach is to use genetic markers, to detect duplications and deletions. The application of this technique to the entire genome as a test for segmental aneusomy requires a method for selecting a panel of markers that could be used and an estimate of the statistical power. We have developed a computer program, DECIDE, that performs these tasks. Given an input map of markers, DECIDE generates a near optimal list of markers and estimates the probability of detecting monosomy or trisomy of varying physical size. We demonstrate the program on a large map of markers obtained from the Southampton and CEPH databases. We conclude that this approach to screening for duplications and deletions is theoretically possible and would have a power comparable to routine Giemsa-banded chromosome analysis." @default.
- W2081719488 created "2016-06-24" @default.
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- W2081719488 date "1997-01-01" @default.
- W2081719488 modified "2023-10-09" @default.
- W2081719488 title "Automated Selection of Short Tandem Repeat Polymorphism Markers for Whole Genome Screening for Segmental Aneusomy" @default.
- W2081719488 doi "https://doi.org/10.1159/000154395" @default.
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