Next generation sequencing of SNPs for non-invasive prenatal diagnosis: challenges and feasibility as illustrated by an application to β-thalassaemia

A Minimal Set of SNPs for the Noninvasive Prenatal Diagnosis ofβ-Thalassaemia

(2013) Thessalia E. Papasavva et al.   ANNALS OF HUMAN GENETICS

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

Non-invasive prenatal measurement of the fetal genome

(2012) H. Christina Fan et al.   NATURE

Non-invasive prenatal diagnosis of beta-thalassemia and sickle-cell disease using pyrophosphorolysis-activated polymerization and melting curve analysis

(2012) Marion Phylipsen et al.   PRENATAL DIAGNOSIS

Noninvasive Whole-Genome Sequencing of a Human Fetus

(2012) J. O. Kitzman et al.   Science Translational Medicine

NARWHAL, a primary analysis pipeline for NGS data

(2011) R. W. W. Brouwer et al.   BIOINFORMATICS

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

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

Noninvasive Prenatal Diagnosis of Fetal Trisomy 18 and Trisomy 13 by Maternal Plasma DNA Sequencing

(2011) Eric Z. Chen et al.   PLoS One

Full COLD-PCR Protocol for Noninvasive Prenatal Diagnosis of Genetic Diseases

(2010) S. Galbiati et al.   CLINICAL CHEMISTRY

Sensitivity of Noninvasive Prenatal Detection of Fetal Aneuploidy from Maternal Plasma Using Shotgun Sequencing Is Limited Only by Counting Statistics

(2010) H. Christina Fan et al.   PLoS One

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

Arrayed Primer Extension for the Noninvasive Prenatal Diagnosis of β-Thalassemia Based on Detection of Single Nucleotide Polymorphisms

(2009) Thessalia Papasavva et al.   Annals of the New York Academy of Sciences

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Maternal Plasma DNA Analysis with Massively Parallel Sequencing by Ligation for Noninvasive Prenatal Diagnosis of Trisomy 21

(2009) R. W.K. Chiu et al.   CLINICAL CHEMISTRY

Size Fractionation of Cell-Free DNA in Maternal Plasma Improves the Detection of a Paternally Inherited β-Thalassemia Point Mutation by MALDI-TOF Mass Spectrometry

(2009) Ying Li et al.   FETAL DIAGNOSIS AND THERAPY

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

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

Peptide-nucleic acid-mediated enriched polymerase chain reaction as a key point for non-invasive prenatal diagnosis of  -thalassemia

(2008) S. Galbiati et al.   HAEMATOLOGICA

Substantial biases in ultra-short read data sets from high-throughput DNA sequencing

(2008) J. C. Dohm et al.   NUCLEIC ACIDS RESEARCH

Noninvasive prenatal diagnosis of monogenic diseases by digital size selection and relative mutation dosage on DNA in maternal plasma

(2008) F. M. F. Lun et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood

(2008) H. C. Fan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA