Bioinformatics Approaches for Fetal DNA Fraction Estimation in Noninvasive Prenatal Testing

Cell-free DNA Comprises an In Vivo Nucleosome Footprint that Informs Its Tissues-Of-Origin

(2016) Matthew W. Snyder et al.   CELL

Universal Haplotype-Based Noninvasive Prenatal Testing for Single Gene Diseases

(2016) Winnie W.I. Hui et al.   CLINICAL CHEMISTRY

Calculating the fetal fraction for noninvasive prenatal testing based on genome-wide nucleosome profiles

(2016) Roy Straver et al.   PRENATAL DIAGNOSIS

Second generation noninvasive fetal genome analysis reveals de novo mutations, single-base parental inheritance, and preferred DNA ends

(2016) K. C. Allen Chan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

FetalQuantSD: accurate quantification of fetal DNA fraction by shallow-depth sequencing of maternal plasma DNA

(2016) Peiyong Jiang et al.   npj Genomic Medicine

Noninvasive Prenatal Diagnosis of Duchenne Muscular Dystrophy: Comprehensive Genetic Diagnosis in Carrier, Proband, and Fetus

(2015) S.-K. Yoo et al.   CLINICAL CHEMISTRY

Haplotype-based approach for noninvasive prenatal tests of Duchenne muscular dystrophy using cell-free fetal DNA in maternal plasma

(2015) Yan Xu et al.   GENETICS IN MEDICINE

Determination of fetal DNA fraction from the plasma of pregnant women using sequence read counts

(2015) Sung K. Kim et al.   PRENATAL DIAGNOSIS

Plasma DNA tissue mapping by genome-wide methylation sequencing for noninvasive prenatal, cancer, and transplantation assessments

(2015) Kun Sun et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Haplotype-based approach for noninvasive prenatal diagnosis of congenital adrenal hyperplasia by maternal plasma DNA sequencing

(2014) Dingyuan Ma et al.   GENE

Noninvasive prenatal testing for autosomal recessive conditions by maternal plasma sequencing in a case of congenital deafness

(2014) Meng Meng et al.   GENETICS IN MEDICINE

Noninvasive Prenatal Diagnosis of Congenital Adrenal Hyperplasia Using Cell-Free Fetal DNA in Maternal Plasma

(2014) Maria I. New et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Maternal Plasma Fetal DNA Fractions in Pregnancies with Low and High Risks for Fetal Chromosomal Aneuploidies

(2014) Irena Hudecova et al.   PLoS One

Theoretical performance of non-invasive prenatal testing for chromosome imbalances using counting of cell-free DNA fragments in maternal plasma

(2014) Peter Benn et al.   PRENATAL DIAGNOSIS

Size-based molecular diagnostics using plasma DNA for noninvasive prenatal testing

(2014) S. C. Y. Yu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Noninvasive Prenatal Methylomic Analysis by Genomewide Bisulfite Sequencing of Maternal Plasma DNA

(2013) F. M. F. Lun et al.   CLINICAL CHEMISTRY

The impact of maternal plasma DNA fetal fraction on next generation sequencing tests for common fetal aneuploidies

(2013) Jacob A. Canick et al.   PRENATAL DIAGNOSIS

Noninvasive prenatal detection and selective analysis of cell-free DNA obtained from maternal blood: evaluation for trisomy 21 and trisomy 18

(2012) Andrew B. Sparks et al.   AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY

Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population

(2012) Kypros H. Nicolaides et al.   AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY

FetalQuant: deducing fractional fetal DNA concentration from massively parallel sequencing of DNA in maternal plasma

(2012) Peiyong Jiang et al.   BIOINFORMATICS

Noninvasive Prenatal Diagnosis of Monogenic Diseases by Targeted Massively Parallel Sequencing of Maternal Plasma: Application to  -Thalassemia

(2012) K.-W. G. Lam et al.   CLINICAL CHEMISTRY

DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study

(2012) Glenn E. Palomaki et al.   GENETICS IN MEDICINE

Genome-Wide Fetal Aneuploidy Detection by Maternal Plasma DNA Sequencing

(2012) Diana W. Bianchi et al.   OBSTETRICS AND GYNECOLOGY

Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting

(2011) Mathias Ehrich et al.   AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY

Noninvasive prenatal diagnosis of hemophilia by microfluidics digital PCR analysis of maternal plasma DNA

(2011) N. B. Y. Tsui et al.   BLOOD

DNA sequencing of maternal plasma to detect Down syndrome: An international clinical validation study

(2011) Glenn E. Palomaki et al.   GENETICS IN MEDICINE

Targeted Massively Parallel Sequencing of Maternal Plasma DNA Permits Efficient and Unbiased Detection of Fetal Alleles

(2010) G. J. W. Liao et al.   CLINICAL CHEMISTRY

Quantification of Fetal DNA by Use of Methylation-Based DNA Discrimination

(2010) A. O. H. Nygren et al.   CLINICAL CHEMISTRY

A novel approach toward the challenge of accurately quantifying fetal DNA in maternal plasma

(2010) Tianjiao Chu et al.   PRENATAL DIAGNOSIS

Maternal Plasma DNA Sequencing Reveals the Genome-Wide Genetic and Mutational Profile of the Fetus

(2010) Y. M. D. Lo et al.   Science Translational Medicine

Statistical model for whole genome sequencing and its application to minimally invasive diagnosis of fetal genetic disease

(2009) T. Chu et al.   BIOINFORMATICS

Microfluidics Digital PCR Reveals a Higher than Expected Fraction of Fetal DNA in Maternal Plasma

(2008) F. M. F. Lun et al.   CLINICAL CHEMISTRY

Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma

(2008) R. W. K. Chiu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA