Detection of Base Substitution-Type Somatic Mosaicism of the NLRP3 Gene with >99.9% Statistical Confidence by Massively Parallel Sequencing

Minor variant detection in amplicons using 454 massive parallel pyrosequencing: experiences and considerations for successful applications

(2012) Ina Vandenbroucke et al.   BIOTECHNIQUES

High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: Results of an international multicenter collaborative study

(2011) Naoko Tanaka et al.   ARTHRITIS AND RHEUMATISM

vipR: variant identification in pooled DNA using R

(2011) A. Altmann et al.   BIOINFORMATICS

Accuracy and quality assessment of 454 GS-FLX Titanium pyrosequencing

(2011) André Gilles et al.   BMC GENOMICS

Variation in genome-wide mutation rates within and between human families

(2011) Donald F Conrad et al.   NATURE GENETICS

Ultrasensitive detection of rare mutations using next-generation targeted resequencing

(2011) Patrick Flaherty et al.   NUCLEIC ACIDS RESEARCH

Current Status of Understanding the Pathogenesis and Management of Patients With NOMID/CINCA

(2011) Raphaela Goldbach-Mansky   Current Rheumatology Reports

Direct Measure of the De Novo Mutation Rate in Autism and Schizophrenia Cohorts

(2010) Philip Awadalla et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A statistical method for the detection of variants from next-generation resequencing of DNA pools

(2010) V. Bansal   BIOINFORMATICS

Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex

(2010) Wei Qin et al.   HUMAN GENETICS

The mutation spectrum revealed by paired genome sequences from a lung cancer patient

(2010) William Lee et al.   NATURE

Parallel sequencing used in detection of mosaic mutations: Comparison with four diagnostic DNA screening techniques

(2009) Anna Rohlin et al.   HUMAN MUTATION

A comprehensive catalogue of somatic mutations from a human cancer genome

(2009) Erin D. Pleasance et al.   NATURE

The infevers autoinflammatory mutation online registry: update with new genes and functions

(2008) Florian Milhavet et al.   HUMAN MUTATION

Substantial biases in ultra-short read data sets from high-throughput DNA sequencing

(2008) J. C. Dohm et al.   NUCLEIC ACIDS RESEARCH

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