Assessing aneuploidy with repetitive element sequencing
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 ...
متن کاملSequencing of long stretches of repetitive DNA
Repetitive DNA is widespread in eukaryotic genomes, in some cases making up more than 80% of the total. SSRs are a type of repetitive DNA formed by short motifs repeated in tandem arrays. In some species, SSRs may be organized into long stretches, usually associated with the constitutive heterochromatin. Variation in repeats can alter the expression of genes, and changes in the number of repeat...
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We investigated the use of Taq dye primer and Taq terminator sequencing chemistry to optimize the quality of sequence data obtained from templates containing homopolymer tracts and repetitive elements. In direct side-by-side comparisons using the Applied Biosystems Model 373A Fluorescent Sequencer, the Taq terminator sequencing chemistry gave much cleaner and more consistent results on long hom...
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The enhancer elements from either simian virus 40 or murine sarcoma virus activate the expression of a transfected rat insulin 1 (r11) gene when placed within 2.0 kilobases or less of the rl1 gene cap site. Inclusion of 4.0 kilobases of upstream r11 sequence, however, results in a substantial reduction in the enhancer-dependent insulin gene expression. These observations suggested that a negati...
متن کاملDigital fetal aneuploidy diagnosis by next-generation sequencing.
Since the identification of fetal lymphocytes in maternal blood in 1969, investigators have endeavored to develop genetics-based noninvasive prenatal diagnostics (NIPD) (1 ). A robust noninvasive approach would augment or potentially supplant amniocentesis and chorionic villus sampling, which, although gold standards, carry a risk of fetal loss. Despite considerable efforts, the use of fetal ce...
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ژورنال
عنوان ژورنال: Proceedings of the National Academy of Sciences
سال: 2020
ISSN: 0027-8424,1091-6490
DOI: 10.1073/pnas.1910041117