Improving the calling of non-invasive prenatal testing on 13-/18-/21-trisomy by support vector machine discrimination

Debates on fetal fraction measurement and DNA-based noninvasive prenatal screening: time for standardisation?

(2016) T Wataganara et al.   BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY

Noninvasive prenatal testing in the general obstetric population: clinical performance and counseling considerations in over 85 000 cases

(2016) Patricia A. Taneja et al.   PRENATAL DIAGNOSIS

Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management

(2015) Baran Bayindir et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Discordant Noninvasive Prenatal Testing and Cytogenetic Results

(2015) Jia-Chi Wang et al.   OBSTETRICAL & GYNECOLOGICAL SURVEY

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

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

Newborn screening and the relaxation of one-child policy in mainland China

(2015) H. Yang et al.   PUBLIC HEALTH

IONA test for first-trimester detection of trisomies 21, 18 and 13

(2015) L. C. Poon et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

Non-invasive prenatal testing for trisomies 21, 18 and 13: clinical experience from 146 958 pregnancies

(2015) H. Zhang et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

Noninvasive prenatal diagnosis of common aneuploidies by semiconductor sequencing

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

A support vector machine for identification of single-nucleotide polymorphisms from next-generation sequencing data

(2013) B. D. O'Fallon et al.   BIOINFORMATICS

Copynumber: Efficient algorithms for single- and multi-track copy number segmentation

(2013) Gro Nilsen et al.   BMC GENOMICS

Noninvasive Prenatal Testing/Noninvasive Prenatal Diagnosis: the Position of the National Society of Genetic Counselors

(2013) Patricia L. Devers et al.   Journal of Genetic Counseling

Noninvasive Fetal Trisomy (NIFTY) test: an advanced noninvasive prenatal diagnosis methodology for fetal autosomal and sex chromosomal aneuploidies

(2012) Fuman Jiang et al.   BMC Medical Genomics

Committee Opinion No. 545

(2012)   OBSTETRICS AND GYNECOLOGY

Prenatal Detection of Down Syndrome using Massively Parallel Sequencing (MPS): a rapid response statement from a committee on behalf of the Board of the International Society for Prenatal Diagnosis, 24 October 2011

(2012) Peter Benn et al.   PRENATAL DIAGNOSIS

LIBSVM

(2012) Chih-Chung Chang et al.   ACM Transactions on Intelligent Systems and Technology

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

(2011) Eric Z. Chen et al.   PLoS One

BEDTools: a flexible suite of utilities for comparing genomic features

(2010) Aaron R. Quinlan et al.   BIOINFORMATICS

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Next-generation DNA sequencing

(2008) Jay Shendure et al.   NATURE BIOTECHNOLOGY

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