Detection of low-frequency DNA variants by targeted sequencing of the Watson and Crick strands

Accurate detection of mosaic variants in sequencing data without matched controls

(2020) Yanmei Dou et al.   NATURE BIOTECHNOLOGY

Integrating genomic features for non-invasive early lung cancer detection

(2020) Jacob J. Chabon et al.   NATURE

Detection and characterization of jagged ends of double-stranded DNA in plasma

(2020) Peiyong Jiang et al.   GENOME RESEARCH

High-intensity sequencing reveals the sources of plasma circulating cell-free DNA variants

(2019) Pedram Razavi et al.   NATURE MEDICINE

Detection and localization of surgically resectable cancers with a multi-analyte blood test

(2018) Joshua D. Cohen et al.   SCIENCE

Massively parallel sequencing techniques for forensics: A review

(2018) Brigitte Bruijns et al.   ELECTROPHORESIS

Targeted genome fragmentation with CRISPR/Cas9 enables fast and efficient enrichment of small genomic regions and ultra-accurate sequencing with low DNA input (CRISPR-DS)

(2018) Daniela Nachmanson et al.   GENOME RESEARCH

UMI-tools: modeling sequencing errors in Unique Molecular Identifiers to improve quantification accuracy

(2017) Tom Smith et al.   GENOME RESEARCH

DNA sequencing at 40: past, present and future

(2017) Jay Shendure et al.   NATURE

Combined circulating tumor DNA and protein biomarker-based liquid biopsy for the earlier detection of pancreatic cancers

(2017) Joshua D. Cohen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Cell-free DNA Comprises an In Vivo Nucleosome Footprint that Informs Its Tissues-Of-Origin

(2016) Matthew W. Snyder et al.   CELL

Integrated digital error suppression for improved detection of circulating tumor DNA

(2016) Aaron M Newman et al.   NATURE BIOTECHNOLOGY

Genome-wide quantification of rare somatic mutations in normal human tissues using massively parallel sequencing

(2016) Margaret L. Hoang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Circulating tumor DNA analysis detects minimal residual disease and predicts recurrence in patients with stage II colon cancer

(2016) Jeanne Tie et al.   Science Translational Medicine

Diagnostic potential of tumor DNA from ovarian cyst fluid

(2016) Yuxuan Wang et al.   eLife

A Combination of Molecular Markers and Clinical Features Improve the Classification of Pancreatic Cysts

(2015) Simeon Springer et al.   GASTROENTEROLOGY

Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing

(2015) Eric Samorodnitsky et al.   HUMAN MUTATION

Sequencing small genomic targets with high efficiency and extreme accuracy

(2015) Michael W Schmitt et al.   NATURE METHODS

Detection of tumor-derived DNA in cerebrospinal fluid of patients with primary tumors of the brain and spinal cord

(2015) Yuxuan Wang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Detection of somatic mutations and HPV in the saliva and plasma of patients with head and neck squamous cell carcinomas

(2015) Yuxuan Wang et al.   Science Translational Medicine

Anchored multiplex PCR for targeted next-generation sequencing

(2014) Zongli Zheng et al.   NATURE MEDICINE

Detecting ultralow-frequency mutations by Duplex Sequencing

(2014) Scott R Kennedy et al.   Nature Protocols

Detection of Circulating Tumor DNA in Early- and Late-Stage Human Malignancies

(2014) C. Bettegowda et al.   Science Translational Medicine

Quantifying single nucleotide variant detection sensitivity in exome sequencing

(2013) Alison M Meynert et al.   BMC BIOINFORMATICS

Cancer Genome Landscapes

(2013) B. Vogelstein et al.   SCIENCE

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

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

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Comprehensive assessment of T-cell receptor  -chain diversity in    T cells

(2009) H. S. Robins et al.   BLOOD

Sequencing the nuclear genome of the extinct woolly mammoth

(2008) Webb Miller et al.   NATURE

Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma

(2008) R. W. K. Chiu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA