Next-generation carrier screening

ACOG Committee Opinion No. 432: Spinal Muscular Atrophy

(2014)   OBSTETRICS AND GYNECOLOGY

Opportunities and Challenges Associated with Clinical Diagnostic Genome Sequencing

(2012) Iris Schrijver et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

An integrated semiconductor device enabling non-optical genome sequencing

(2011) Jonathan M. Rothberg et al.   NATURE

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

Committee Opinion No. 486: Update on Carrier Screening for Cystic Fibrosis

(2011)   OBSTETRICS AND GYNECOLOGY

Carrier Testing for Severe Childhood Recessive Diseases by Next-Generation Sequencing

(2011) C. J. Bell et al.   Science Translational Medicine

Microindel detection in short-read sequence data

(2010) Peter Krawitz et al.   BIOINFORMATICS

Fast and accurate long-read alignment with Burrows–Wheeler transform

(2010) Heng Li et al.   BIOINFORMATICS

A novel custom resequencing array for dilated cardiomyopathy

(2010) Rebekah S Zimmerman et al.   GENETICS IN MEDICINE

Evaluation of Second-Generation Sequencing of 19 Dilated Cardiomyopathy Genes for Clinical Applications

(2010) Sivakumar Gowrisankar et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Target-enrichment strategies for next-generation sequencing

(2010) Lira Mamanova et al.   NATURE METHODS

Committee Opinion No. 469: Carrier Screening for Fragile X Syndrome

(2010)   OBSTETRICS AND GYNECOLOGY

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Massively parallel exon capture and library-free resequencing across 16 genomes

(2009) Emily H Turner et al.   NATURE METHODS

ACOG Committee Opinion No. 442: Preconception and Prenatal Carrier Screening for Genetic Diseases in Individuals of Eastern European Jewish Descent

(2009)   OBSTETRICS AND GYNECOLOGY

Human Genome Sequencing Using Unchained Base Reads on Self-Assembling DNA Nanoarrays

(2009) R. Drmanac et al.   SCIENCE

Accurate whole human genome sequencing using reversible terminator chemistry

(2008) David R. Bentley et al.   NATURE

Core Signaling Pathways in Human Pancreatic Cancers Revealed by Global Genomic Analyses

(2008) S. Jones et al.   SCIENCE