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Sequencing all 24 human chromosomes uncovers rare disorders

11:10 EDT 30 Aug 2017 | Medical Xpress

Extending noninvasive prenatal screening to all 24 human chromosomes can detect genetic disorders that may explain miscarriage and abnormalities during pregnancy, according to a study by researchers at the National Institutes of Health and other institutions. Because of the way data have been analyzed, typical genomic tests performed during pregnancy have targeted extra copies of chromosomes 21, 18 and 13, but rarely evaluated all 24 chromosomes. The study findings, which appear in the August 30 issue of Science Translational Medicine, may ultimately improve the accuracy of these tests, including by explaining why some give false-positive results.

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