Article
Proof-of-principle rapid noninvasive prenatal diagnosis of autosomal recessive founder mutations.
The Journal of clinical investigation - 1 Oct 2015
Zeevi David A, Altarescu Gheona, Weinberg-Shukron Ariella, Zahdeh Fouad, Dinur Tama, Chicco Gaya, Herskovitz Yair, Renbaum Paul, Elstein Deborah, Levy-Lahad Ephrat, Rolfs Arndt, Zimran Ari
Abstract excerpt
BACKGROUND: Noninvasive prenatal testing can be used to accurately detect chromosomal aneuploidies in circulating fetal DNA; however, the necessity of parental haplotype construction is a primary drawback to noninvasive prenatal diagnosis (NIPD) of monogenic disease. Family-specific haplotype assembly is essential for accurate diagnosis of minuscule amounts of circulating cell-free fetal DNA; however, current...
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