Ultrasensitive and high-efficiency screen of de novo low-frequency mutations by o2n-seq

Locating rearrangement events in a phylogeny based on highly fragmented assemblies

(2016) Chunfang Zheng et al.   BMC GENOMICS

Rates and mechanisms of bacterial mutagenesis from maximum-depth sequencing

(2016) Justin Jee et al.   NATURE

Using ultra-sensitive next generation sequencing to dissect DNA damage-induced mutagenesis

(2016) Kaile Wang et al.   Scientific Reports

Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of “de novo”SCN1AMutations in Children with Dravet Syndrome

(2015) Xiaojing Xu et al.   HUMAN MUTATION

Sequencing small genomic targets with high efficiency and extreme accuracy

(2015) Michael W Schmitt et al.   NATURE METHODS

Extremely high genetic diversity in a single tumor points to prevalence of non-Darwinian cell evolution

(2015) Shaoping Ling et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Trimmomatic: a flexible trimmer for Illumina sequence data

(2014) Anthony M. Bolger et al.   BIOINFORMATICS

Postzygotic single-nucleotide mosaicisms in whole-genome sequences of clinically unremarkable individuals

(2014) August Y Huang et al.   CELL RESEARCH

Detecting ultralow-frequency mutations by Duplex Sequencing

(2014) Scott R Kennedy et al.   Nature Protocols

Library preparation for highly accurate population sequencing of RNA viruses

(2014) Ashley Acevedo et al.   Nature Protocols

High-accuracyde novoassembly and SNP detection of chloroplast genomes using a SMRT circular consensus sequencing strategy

(2014) Qiushi Li et al.   NEW PHYTOLOGIST

Heterogeneity of genomic evolution and mutational profiles in multiple myeloma

(2014) Niccolo Bolli et al.   Nature Communications

A unified approach for allele frequency estimation, SNP detection and association studies based on pooled sequencing data using EM algorithms

(2013) Quan Chen et al.   BMC GENOMICS

Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation

(2013) J. B. Hiatt et al.   GENOME RESEARCH

Mutational and fitness landscapes of an RNA virus revealed through population sequencing

(2013) Ashley Acevedo et al.   NATURE

Updating benchtop sequencing performance comparison

(2013) Sebastian Jünemann et al.   NATURE BIOTECHNOLOGY

Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples

(2013) Kristian Cibulskis et al.   NATURE BIOTECHNOLOGY

High-throughput DNA sequencing errors are reduced by orders of magnitude using circle sequencing

(2013) D. I. Lou et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Performance comparison of benchtop high-throughput sequencing platforms

(2012) Nicholas J Loman et al.   NATURE BIOTECHNOLOGY

Intratumor Heterogeneity and Branched Evolution Revealed by Multiregion Sequencing

(2012) Marco Gerlinger et al.   NEW ENGLAND JOURNAL OF MEDICINE

Detection of ultra-rare mutations by next-generation sequencing

(2012) M. W. Schmitt et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Reliable detection of subclonal single-nucleotide variants in tumour cell populations

(2012) Moritz Gerstung et al.   Nature Communications

Identification and correction of systematic error in high-throughput sequence data

(2011) Frazer Meacham et al.   BMC BIOINFORMATICS

Field guide to next-generation DNA sequencers

(2011) TRAVIS C. GLENN   Molecular Ecology Resources

Tumour evolution inferred by single-cell sequencing

(2011) Nicholas Navin et al.   NATURE

Optimized filtering reduces the error rate in detecting genomic variants by short-read sequencing

(2011) Joke Reumers et al.   NATURE BIOTECHNOLOGY

Ultrasensitive detection of rare mutations using next-generation targeted resequencing

(2011) Patrick Flaherty et al.   NUCLEIC ACIDS RESEARCH

Detection and quantification of rare mutations with massively parallel sequencing

(2011) I. Kinde et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Detection of low prevalence somatic mutations in solid tumors with ultra-deep targeted sequencing

(2011) Olivier Harismendy et al.   GENOME BIOLOGY

Population genetic inference from genomic sequence variation

(2010) J. E. Pool et al.   GENOME RESEARCH

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

(2010) A. McKenna et al.   GENOME RESEARCH

Parallel, tag-directed assembly of locally derived short sequence reads

(2010) Joseph B Hiatt et al.   NATURE METHODS

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

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Subclonal phylogenetic structures in cancer revealed by ultra-deep sequencing

(2008) P. J. Campbell et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA