Limitations and opportunities of technologies for the analysis of cell-free DNA in cancer diagnostics
Cell-free DNA (cfDNA) in the circulating blood plasma of patients with cancer contains
tumour-derived DNA sequences that can serve as biomarkers for guiding therapy, for the …
tumour-derived DNA sequences that can serve as biomarkers for guiding therapy, for the …
Procedure‐related risk of miscarriage following amniocentesis and chorionic villus sampling: a systematic review and meta‐analysis
R Akolekar, J Beta, G Picciarelli… - … in Obstetrics & …, 2015 - Wiley Online Library
Objectives To estimate procedure‐related risks of miscarriage following amniocentesis and
chorionic villus sampling (CVS) based on a systematic review of the literature and a meta …
chorionic villus sampling (CVS) based on a systematic review of the literature and a meta …
Noninvasive identification and monitoring of cancer mutations by targeted deep sequencing of plasma DNA
Plasma of cancer patients contains cell-free tumor DNA that carries information on tumor
mutations and tumor burden. Individual mutations have been probed using allele-specific …
mutations and tumor burden. Individual mutations have been probed using allele-specific …
Plasma DNA tissue map** by genome-wide methylation sequencing for noninvasive prenatal, cancer, and transplantation assessments
Plasma consists of DNA released from multiple tissues within the body. Using genome-wide
bisulfite sequencing of plasma DNA and deconvolution of the sequencing data with …
bisulfite sequencing of plasma DNA and deconvolution of the sequencing data with …
Enhancing the accuracy of next-generation sequencing for detecting rare and subclonal mutations
Mutations, the fuel of evolution, are first manifested as rare DNA changes within a population
of cells. Although next-generation sequencing (NGS) technologies have revolutionized the …
of cells. Although next-generation sequencing (NGS) technologies have revolutionized the …
DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study
GE Palomaki, EM Kloza, GM Lambert-Messerlian… - Genetics in …, 2011 - nature.com
Purpose: Prenatal screening for Down syndrome has improved, but the number of resulting
invasive diagnostic procedures remains problematic. Measurement of circulating cell-free …
invasive diagnostic procedures remains problematic. Measurement of circulating cell-free …
[HTML][HTML] DNA sequencing versus standard prenatal aneuploidy screening
DW Bianchi, RL Parker, J Wentworth… - New England journal …, 2014 - Mass Medical Soc
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 …
massively parallel sequencing of maternal plasma cell-free DNA (cfDNA testing) accurately …
Analysis of cell‐free DNA in maternal blood in screening for fetal aneuploidies: updated meta‐analysis
MM Gil, MS Quezada, R Revello… - … in obstetrics & …, 2015 - Wiley Online Library
Objective To review clinical validation or implementation studies of maternal blood cell‐free
(cf) DNA analysis and define the performance of screening for fetal trisomies 21, 18 and 13 …
(cf) DNA analysis and define the performance of screening for fetal trisomies 21, 18 and 13 …
Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing
DW Bianchi, LD Platt, JD Goldberg… - Obstetrics & …, 2012 - journals.lww.com
OBJECTIVE: To prospectively determine the diagnostic accuracy of massively parallel
sequencing to detect whole chromosome fetal aneuploidy from maternal plasma …
sequencing to detect whole chromosome fetal aneuploidy from maternal plasma …
DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study
GE Palomaki, C Deciu, EM Kloza… - Genetics in …, 2012 - nature.com
Purpose: To determine whether maternal plasma cell–free DNA sequencing can effectively
identify trisomy 18 and 13. Methods: Sixty-two pregnancies with trisomy 18 and 12 with …
identify trisomy 18 and 13. Methods: Sixty-two pregnancies with trisomy 18 and 12 with …