Chromosomes to Circulating DNA
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AbstractIn recent years, there have been an intense interest in the diagnostic
applications of circulating DNA. One source of such interest is in the
rapid adoption of noninvasive prenatal testing (NIPT) using cell-free
fetal DNA in maternal plasma. One area of focus of my laboratory is
to explore the limit of NIPT. In this regard, we have recently completed
a ‘second generation’ noninvasive fetal genome from maternal
plasma. For this work, we have sequenced the plasma DNA of a
pregnant woman to a depth of 270X haploid genome coverage. This
represents the deepest that a single plasma DNA sample has been
sequenced to date. Using this approach, together with a novel bioinformatics
pipeline, we are able to deduce, for the first time, fetal
de novo mutations on a genomewide level with a sensitivity of 85%
and a positive predictive value of 74%. We are also able to determine
the maternal inheritance of the fetus with a 90-fold increase in resolution
when compared with previous attempts. Finally, we have
shown that plasma DNA molecules have preferred ending sites. Interestingly,
fetal-derived and maternal-derived plasma DNA molecules
have different sets of such preferred ending sites. This latter discovery
has opened up many new avenues of investigation and has created
new applications, e.g. for determining the fraction of fetal DNA
without using genetic polymorphisms or DNA methylation markers.
NIPT also serves as a model for developing noninvasive diagnostics
in many other fields, e.g. oncology and transplantation.
All Author(s) ListLo YMD
Journal nameMolecular Cytogenetics
Title of PublicationMolecular Cytogenetics
Detailed descriptionMeeting abstracts from the 11th European Cytogenetics Conference,
Abstract L1
Volume Number10 (Suppl. 1)
LanguagesEnglish-United Kingdom
Web of Science Subject CategoriesGenetics & Heredity;Genetics & Heredity

Last updated on 2020-24-05 at 01:43