Next-generation sequencing technologies: breaking the sound barrier of human genetics

Next generation sequencing in cancer research and clinical application

(2013) Derek Shyr et al.   BIOLOGICAL PROCEDURES ONLINE

Technical and implementation issues in using next-generation sequencing of cancers in clinical practice

(2013) D Ulahannan et al.   BRITISH JOURNAL OF CANCER

Detection rate and prognostic value of circulating tumor cells and circulating tumor DNA in metastatic uveal melanoma

(2013) François-Clément Bidard et al.   INTERNATIONAL JOURNAL OF CANCER

Detection of EGFRvIII mutant DNA in the peripheral blood of brain tumor patients

(2013) Mohamad A. Salkeni et al.   JOURNAL OF NEURO-ONCOLOGY

Thymus-derived regulatory T cells contribute to tolerance to commensal microbiota

(2013) Anna Cebula et al.   NATURE

Non-invasive analysis of acquired resistance to cancer therapy by sequencing of plasma DNA

(2013) Muhammed Murtaza et al.   NATURE

Implementing personalized cancer genomics in clinical trials

(2013) Richard Simon et al.   NATURE REVIEWS DRUG DISCOVERY

Cancer genome-sequencing study design

(2013) Jill C. Mwenifumbo et al.   NATURE REVIEWS GENETICS

Analysis of Circulating Tumor DNA to Monitor Metastatic Breast Cancer

(2013) Sarah-Jane Dawson et al.   NEW ENGLAND JOURNAL OF MEDICINE

Aluminum tolerance in maize is associated with higher MATE1 gene copy number

(2013) L. G. Maron et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Lessons from next-generation sequencing analysis in hematological malignancies

(2013) E Braggio et al.   Blood Cancer Journal

Reducing assembly complexity of microbial genomes with single-molecule sequencing

(2013) Sergey Koren et al.   GENOME BIOLOGY

Analysis of RNA base modification and structural rearrangement by single-molecule real-time detection of reverse transcription

(2013) Igor D Vilfan et al.   JOURNAL OF NANOBIOTECHNOLOGY

A tale of three next generation sequencing platforms: comparison of Ion torrent, pacific biosciences and illumina MiSeq sequencers

(2012) Michael Quail et al.   BMC GENOMICS

Finished bacterial genomes from shotgun sequence data

(2012) F. J. Ribeiro et al.   GENOME RESEARCH

Comprehensive molecular characterization of human colon and rectal cancer

(2012)   NATURE

Comprehensive molecular portraits of human breast tumours

(2012) Daniel C. Koboldt et al.   NATURE

Comprehensive genomic characterization of squamous cell lung cancers

(2012)   NATURE

The battle for sequencing supremacy

(2012) Michael Eisenstein   NATURE BIOTECHNOLOGY

Hybrid error correction and de novo assembly of single-molecule sequencing reads

(2012) Sergey Koren et al.   NATURE BIOTECHNOLOGY

Whole-genome and whole-exome sequencing in neurological diseases

(2012) Jia-Nee Foo et al.   Nature Reviews Neurology

Use of next-generation sequencing and other whole-genome strategies to dissect neurological disease

(2012) Jose Bras et al.   NATURE REVIEWS NEUROSCIENCE

Investigation of FGFR2-IIIC Signaling via FGF-2 Ligand for Advancing GCT Stromal Cell Differentiation

(2012) Shalini Singh et al.   PLoS One

Noninvasive Identification and Monitoring of Cancer Mutations by Targeted Deep Sequencing of Plasma DNA

(2012) T. Forshew et al.   Science Translational Medicine

Detection of Chromosomal Alterations in the Circulation of Cancer Patients with Whole-Genome Sequencing

(2012) R. J. Leary et al.   Science Translational Medicine

The birth of the Epitranscriptome: deciphering the function of RNA modifications

(2012) Yogesh Saletore et al.   GENOME BIOLOGY

Genomics really gets personal: How exome and whole genome sequencing challenge the ethical framework of human genetics research

(2011) Holly K. Tabor et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Charting a course for genomic medicine from base pairs to bedside

(2011) Eric D. Green et al.   NATURE

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

Improved Survival with Vemurafenib in Melanoma with BRAF V600E Mutation

(2011) Paul B. Chapman et al.   NEW ENGLAND JOURNAL OF MEDICINE

BamView: viewing mapped read alignment data in the context of the reference sequence

(2010) T. Carver et al.   BIOINFORMATICS

Savant: genome browser for high-throughput sequencing data

(2010) M. Fiume et al.   BIOINFORMATICS

Integrated Genomic Analysis Identifies Clinically Relevant Subtypes of Glioblastoma Characterized by Abnormalities in PDGFRA, IDH1, EGFR, and NF1

(2010) Roel G.W. Verhaak et al.   CANCER CELL

Real-time tRNA transit on single translating ribosomes at codon resolution

(2010) Sotaro Uemura et al.   NATURE

Tablet--next generation sequence assembly visualization

(2009) I. Milne et al.   BIOINFORMATICS

VarScan: variant detection in massively parallel sequencing of individual and pooled samples

(2009) Daniel C. Koboldt et al.   BIOINFORMATICS

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Metagenomic Pyrosequencing and Microbial Identification

(2009) J. F. Petrosino et al.   CLINICAL CHEMISTRY

Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding

(2009) K. J. McKernan et al.   GENOME RESEARCH

Circos: An information aesthetic for comparative genomics

(2009) M. Krzywinski et al.   GENOME RESEARCH

Direct RNA sequencing

(2009) Fatih Ozsolak et al.   NATURE

Quantification of the yeast transcriptome by single-molecule sequencing

(2009) Doron Lipson et al.   NATURE BIOTECHNOLOGY

How to map billions of short reads onto genomes

(2009) Cole Trapnell et al.   NATURE BIOTECHNOLOGY

BreakDancer: an algorithm for high-resolution mapping of genomic structural variation

(2009) Ken Chen et al.   NATURE METHODS

ChIP–seq: advantages and challenges of a maturing technology

(2009) Peter J. Park   NATURE REVIEWS GENETICS

Gefitinib or Carboplatin–Paclitaxel in Pulmonary Adenocarcinoma

(2009) Tony S. Mok et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

(2009) R. Drmanac et al.   SCIENCE

SOAP: short oligonucleotide alignment program

(2008) R. Li et al.   BIOINFORMATICS

De novo fragment assembly with short mate-paired reads: Does the read length matter?

(2008) M. J. Chaisson et al.   GENOME RESEARCH

Mapping short DNA sequencing reads and calling variants using mapping quality scores

(2008) H. Li et al.   GENOME RESEARCH

Accurate whole human genome sequencing using reversible terminator chemistry

(2008) David R. Bentley et al.   NATURE

Next-generation DNA sequencing

(2008) Jay Shendure et al.   NATURE BIOTECHNOLOGY

Circulating mutant DNA to assess tumor dynamics

(2008) Frank Diehl et al.   NATURE MEDICINE

RNA-Seq: a revolutionary tool for transcriptomics

(2008) Zhong Wang et al.   NATURE REVIEWS GENETICS

Bioinformatics challenges of new sequencing technology

(2008) Mihai Pop et al.   TRENDS IN GENETICS

Research Ethics Recommendations for Whole-Genome Research: Consensus Statement

(2008) Timothy Caulfield et al.   PLOS BIOLOGY