Similarities and Differences between Exome Sequences Found in a Variety of Tissues from the Same Individual

Low cerebrospinal fluid concentration of mitochondrial DNA in preclinical Alzheimer disease

(2013) Petar Podlesniy et al.   ANNALS OF NEUROLOGY

The promise of single-cell sequencing

(2013) James Eberwine et al.   NATURE METHODS

Genome Mosaicism--One Human, Multiple Genomes

(2013) J. R. Lupski   SCIENCE

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

(2012) Pablo Cingolani et al.   FLY

Detectable clonal mosaicism and its relationship to aging and cancer

(2012) Kevin B Jacobs et al.   NATURE GENETICS

Detectable clonal mosaicism from birth to old age and its relationship to cancer

(2012) Cathy C Laurie et al.   NATURE GENETICS

Magnetic sequencing

(2012) Sten Linnarsson   NATURE METHODS

GeneCodis3: a non-redundant and modular enrichment analysis tool for functional genomics

(2012) D. Tabas-Madrid et al.   NUCLEIC ACIDS RESEARCH

Search for Pore-fection

(2012) E. Pennisi   SCIENCE

The variant call format and VCFtools

(2011) P. Danecek et al.   BIOINFORMATICS

MosaicSCN1Amutations in familial partial epilepsy with antecedent febrile seizures

(2011) Y.-W. Shi et al.   GENES BRAIN AND BEHAVIOR

Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies

(2011) Alistair T Pagnamenta et al.   JOURNAL OF HUMAN GENETICS

Analyses of X-linked and autosomal genetic variation in population-scale whole genome sequencing

(2011) Srikanth Gottipati et al.   NATURE GENETICS

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

The UCSC Genome Browser database: extensions and updates 2011

(2011) T. R. Dreszer et al.   NUCLEIC ACIDS RESEARCH

Fast and accurate long-read alignment with Burrows–Wheeler transform

(2010) Heng Li et al.   BIOINFORMATICS

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

(2010) A. McKenna et al.   GENOME RESEARCH

The Characterization of Twenty Sequenced Human Genomes

(2010) Kimberly Pelak et al.   PLoS Genetics

Somatic evolutionary genomics: Mutations during development cause highly variable genetic mosaicism with risk of cancer and neurodegeneration

(2009) S. A. Frank   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA