Performance comparison of exome DNA sequencing technologies

[1]  R. Durbin,et al.  Dindel: accurate indel calls from short-read data. , 2011, Genome research.

[2]  Huanming Yang,et al.  Exome Sequencing Identifies ZNF644 Mutations in High Myopia , 2011, PLoS genetics.

[3]  N. Rahman,et al.  Mutations in CEP57 cause mosaic variegated aneuploidy syndrome , 2011, Nature Genetics.

[4]  M. Brown,et al.  Whole-Exome Re-Sequencing in a Family Quartet Identifies POP1 Mutations As the Cause of a Novel Skeletal Dysplasia , 2011, PLoS genetics.

[5]  Martin S. Taylor,et al.  CEP152 is a genome maintenance protein disrupted in Seckel syndrome , 2011, Nature Genetics.

[6]  Emmanouil Collab.  A map of human genome variation from population-scale sequencing , 2011, Nature.

[7]  T. Fennell,et al.  Analyzing and minimizing PCR amplification bias in Illumina sequencing libraries , 2011, Genome Biology.

[8]  S. Nelson,et al.  Melanomas acquire resistance to B-RAF(V600E) inhibition by RTK or N-RAS upregulation , 2010, Nature.

[9]  Andrew C. Adey,et al.  Rapid, low-input, low-bias construction of shotgun fragment libraries by high-density in vitro transposition , 2010, Genome Biology.

[10]  A. Butte,et al.  Non-Synonymous and Synonymous Coding SNPs Show Similar Likelihood and Effect Size of Human Disease Association , 2010, PloS one.

[11]  M. DePristo,et al.  The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. , 2010, Genome research.

[12]  Emily H Turner,et al.  Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome , 2010, Nature Genetics.

[13]  J. Kitzman,et al.  Whole exome capture in solution with 3 Gbp of data , 2010, Genome Biology.

[14]  Alexander A. Morgan,et al.  Clinical assessment incorporating a personal genome , 2010, The Lancet.

[15]  P. Shannon,et al.  Exome sequencing identifies the cause of a Mendelian disorder , 2009, Nature Genetics.

[16]  S. Nelson,et al.  New methods to analyse microarray data that partially lack a reference signal , 2009, BMC Genomics.

[17]  Margaret A. Pericak-Vance,et al.  Exome Sequencing of a Multigenerational Human Pedigree , 2009, PloS one.

[18]  John C. Marioni,et al.  Effect of read-mapping biases on detecting allele-specific expression from RNA-sequencing data , 2009, Bioinform..

[19]  Gonçalo R. Abecasis,et al.  The Sequence Alignment/Map format and SAMtools , 2009, Bioinform..

[20]  J. Maguire,et al.  Solution Hybrid Selection with Ultra-long Oligonucleotides for Massively Parallel Targeted Sequencing , 2009, Nature Biotechnology.

[21]  Tatiana A. Tatusova,et al.  NCBI Reference Sequences: current status, policy and new initiatives , 2008, Nucleic Acids Res..

[22]  Emily H Turner,et al.  Targeted Capture and Massively Parallel Sequencing of Twelve Human Exomes , 2009, Nature.

[23]  Juliane C. Dohm,et al.  Substantial biases in ultra-short read data sets from high-throughput DNA sequencing , 2008, Nucleic acids research.

[24]  J. Lupski,et al.  The complete genome of an individual by massively parallel DNA sequencing , 2008, Nature.

[25]  Stijn van Dongen,et al.  miRBase: tools for microRNA genomics , 2007, Nucleic Acids Res..

[26]  Ryan E. Mills,et al.  An initial map of insertion and deletion (INDEL) variation in the human genome. , 2006, Genome research.

[27]  David Haussler,et al.  The UCSC Known Genes , 2006, Bioinform..

[28]  M. Ishiura,et al.  Determinants of sensitivity and specificity in spotted DNA microarrays with unmodified oligonucleotides. , 2004, Genes & genetic systems.

[29]  Martin S. Taylor,et al.  Occurrence and consequences of coding sequence insertions and deletions in Mammalian genomes. , 2004, Genome research.

[30]  Mark Gerstein,et al.  Patterns of nucleotide substitution, insertion and deletion in the human genome inferred from pseudogenes. , 2003, Nucleic acids research.

[31]  Jiasen Lu,et al.  Assessment of the sensitivity and specificity of oligonucleotide (50mer) microarrays. , 2000, Nucleic acids research.