Open AccessMaternal Plasma DNA Analysis with Massively Parallel Sequencing by Ligation for Noninvasive Prenatal Diagnosis of Trisomy 21
Author(s) -
Rossa W. K. Chiu,
Hao Sun,
Ranjit Akolekar,
Christopher R. Clouser,
Clarence Lee,
Kevin McKernan,
Daixing Zhou,
K. H. Nicolaides,
Yuk Ming Dennis Lo
Publication year - 2009
Publication title -
clinical chemistry
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.705
H-Index - 218
eISSN - 1530-8561
pISSN - 0009-9147
DOI - 10.1373/clinchem.2009.136507
Subject(s) - trisomy , massive parallel sequencing , chromosome 21 , aneuploidy , dna sequencing , biology , chromosome , chromosome 18 , genetics , dna , computational biology , gene
Noninvasive prenatal diagnosis of trisomy 21 (T21) has recently been shown to be achievable by massively parallel sequencing of maternal plasma on a sequencing-by-synthesis platform. The quantification of several other human chromosomes, including chromosomes 18 and 13, has been shown to be less precise, however, with quantitative biases related to the chromosomal GC content.
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