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

Optimal algorithms for haplotype assembly from whole-genome sequence data

(2010) D. He et al.   BIOINFORMATICS

Analysis of the Size Distributions of Fetal and Maternal Cell-Free DNA by Paired-End Sequencing

(2010) H. C. Fan et al.   CLINICAL CHEMISTRY

Ethical challenges in providing noninvasive prenatal diagnosis

(2010) Peter A Benn et al.   CURRENT OPINION IN OBSTETRICS & GYNECOLOGY

Target-enrichment strategies for next-generation sequencing

(2010) Lira Mamanova et al.   NATURE METHODS

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

Development of Personalized Tumor Biomarkers Using Massively Parallel Sequencing

(2010) R. J. Leary et al.   Science Translational Medicine

SOAP2: an improved ultrafast tool for short read alignment

(2009) R. 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

Non-invasive prenatal testing: ethical issues explored

(2009) Antina de Jong et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Chiasma distribution at diakinesis in the normal human male

(2009) MAJ HULTÉN   HEREDITAS

Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

(2009) Andreas Gnirke et al.   NATURE BIOTECHNOLOGY

Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants

(2009) Sekar Kathiresan et al.   NATURE GENETICS

Direct determination of haplotypes from single DNA molecules

(2009) Ming Xiao et al.   NATURE METHODS

Unequal representation of different unique genomic DNA sequences in the cell-free plasma DNA of individual donors

(2008) William M. Puszyk et al.   CLINICAL BIOCHEMISTRY

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

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

Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs

(2008) Joshua M Korn et al.   NATURE GENETICS

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

Depletion of Human Histone H1 Variants Uncovers Specific Roles in Gene Expression and Cell Growth

(2008) Mónica Sancho et al.   PLoS Genetics