Target enrichment using parallel nanoliter quantitative PCR amplification

The Exomes of the NCI-60 Panel: A Genomic Resource for Cancer Biology and Systems Pharmacology

(2013) O. D. Abaan et al.   CANCER RESEARCH

Comprehensive Mutation Analysis for Congenital Muscular Dystrophy: A Clinical PCR-Based Enrichment and Next-Generation Sequencing Panel

(2013) C. Alexander Valencia et al.   PLoS One

Microfluidic Amplification as a Tool for Massive Parallel Sequencing of the Familial Hypercholesterolemia Genes

(2012) S. Hollants et al.   CLINICAL CHEMISTRY

High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing

(2012) Jan Halbritter et al.   JOURNAL OF MEDICAL GENETICS

Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients

(2011) NA Schlipf et al.   CLINICAL GENETICS

Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation

(2011) Melanie A. Jones et al.   GENETICS IN MEDICINE

Targeted sequencing of the human X chromosome exome

(2011) Kajari Mondal et al.   GENOMICS

Integrated genomic analyses of ovarian carcinoma

(2011) D. Bell et al.   NATURE

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

High-throughput Universal Probe Salmonella Serotyping (UPSS) by nanoPCR

(2010) Florian Mertes et al.   JOURNAL OF MICROBIOLOGICAL METHODS

Targeted resequencing of candidate genes using selector probes

(2010) H. Johansson et al.   NUCLEIC ACIDS RESEARCH

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

A small-cell lung cancer genome with complex signatures of tobacco exposure

(2009) Erin D. Pleasance et al.   NATURE

A comprehensive catalogue of somatic mutations from a human cancer genome

(2009) Erin D. Pleasance et al.   NATURE

Recurring Mutations Found by Sequencing an Acute Myeloid Leukemia Genome

(2009) Elaine R. Mardis et al.   NEW ENGLAND JOURNAL OF MEDICINE

The impact of next-generation sequencing technology on genetics

(2008) Elaine R. Mardis   TRENDS IN GENETICS