Rapid and efficient human mutation detection using a bench-top next-generation DNA sequencer

Massive parallel amplicon sequencing of the breast cancer genes BRCA1 and BRCA2: opportunities, challenges, and limitations

(2011) Kim De Leeneer et al.   HUMAN MUTATION

Differential Contributions of Rare and Common, Coding and Noncoding Ret Mutations to Multifactorial Hirschsprung Disease Liability

(2010) Eileen Sproat Emison et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Haplotyping and copy number estimation of the highly polymorphic human beta-defensin locus on 8p23 by 454 amplicon sequencing

(2010) Stefan Taudien et al.   BMC GENOMICS

A 454 multiplex sequencing method for rapid and reliable genotyping of highly polymorphic genes in large-scale studies

(2010) Maxime Galan et al.   BMC GENOMICS

A novel single cDNA amplicon pyrosequencing method for high-throughput, cost-effective sequence-based HLA class I genotyping

(2010) Simon M. Lank et al.   HUMAN IMMUNOLOGY

Next-generation sequencing: the solution for high-resolution, unambiguous human leukocyte antigen typing

(2010) C. Lind et al.   HUMAN IMMUNOLOGY

Next-Generation Sequencing Technology Reveals a Characteristic Pattern of Molecular Mutations in 72.8% of Chronic Myelomonocytic Leukemia by Detecting Frequent Alterations in TET2, CBL, RAS, and RUNX1

(2010) Alexander Kohlmann et al.   JOURNAL OF CLINICAL ONCOLOGY

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

Mutation spectrum revealed by breakpoint sequencing of human germline CNVs

(2010) Donald F Conrad et al.   NATURE GENETICS

Titration-free massively parallel pyrosequencing using trace amounts of starting material

(2010) Zongli Zheng et al.   NUCLEIC ACIDS RESEARCH

Mitochondrial DNA Variant Discovery and Evaluation in Human Cardiomyopathies through Next-Generation Sequencing

(2010) Michael V. Zaragoza et al.   PLoS One

The first Irish genome and ways of improving sequence accuracy

(2010) Young Seok Ju et al.   GENOME BIOLOGY

Galaxy: a comprehensive approach for supporting accessible, reproducible, and transparent computational research in the life sciences

(2010) Jeremy Goecks et al.   GENOME BIOLOGY

Semaphorin3A/neuropilin-1 signaling acts as a molecular switch regulating neural crest migration during cornea development

(2009) Peter Y. Lwigale et al.   DEVELOPMENTAL BIOLOGY

Targeted capture and massively parallel sequencing of 12 human exomes

(2009) Sarah B. Ng et al.   NATURE

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS

Sequencing technologies — the next generation

(2009) Michael L. Metzker   NATURE REVIEWS GENETICS

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

(2009) R. Drmanac et al.   SCIENCE

Evaluation of next generation sequencing platforms for population targeted sequencing studies

(2009) Olivier Harismendy et al.   GENOME BIOLOGY

Next-Generation DNA Sequencing Methods

(2008) Elaine R. Mardis   Annual Review of Genomics and Human Genetics

Evaluation of human gene variant detection in amplicon pools by the GS-FLX parallel Pyrosequencer

(2008) Roberta Bordoni et al.   BMC GENOMICS

Quality scores and SNP detection in sequencing-by-synthesis systems

(2008) W. Brockman et al.   GENOME RESEARCH

The complete genome of an individual by massively parallel DNA sequencing

(2008) David A. Wheeler et al.   NATURE