DNA sequencing trumps standard screening tools
نویسندگان
چکیده
منابع مشابه
DNA sequencing versus standard prenatal aneuploidy screening.
BACKGROUND In high-risk pregnant women, noninvasive prenatal testing with the use of massively parallel sequencing of maternal plasma cell-free DNA (cfDNA testing) accurately detects fetal autosomal aneuploidy. Its performance in low-risk women is unclear. METHODS At 21 centers in the United States, we collected blood samples from women with singleton pregnancies who were undergoing standard ...
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To the Editor: The report by Blesa et al. (1 ) compares 2 methods, DNA sequencing and DNA arrays [as previously reported by us (2 )], for the genetic diagnosis of familial hypercholesterolemia (FH). Lipochip (Lacer SA), the first DNA array-based commercial platform for the genetic diagnosis of FH, is now available and is funded by the Spanish Health Service. The procedure is as follows: blood s...
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ژورنال
عنوان ژورنال: Nature Reviews Genetics
سال: 2014
ISSN: 1471-0056,1471-0064
DOI: 10.1038/nrg3716