Mutation discovery in the mouse using genetically guided array capture and resequencing.

PubWeight™: 1.13‹?› | Rank: Top 10%

🔗 View Article (PMC 2829192)

Published in Mamm Genome on July 21, 2009

Authors

Mark D'Ascenzo1, Carl Meacham, Jacob Kitzman, Christina Middle, Jim Knight, Roger Winer, Miroslav Kukricar, Todd Richmond, Thomas J Albert, Anne Czechanski, Leah Rae Donahue, Jason Affourtit, Jeffrey A Jeddeloh, Laura Reinholdt

Author Affiliations

1: Roche NimbleGen, 500 South Rosa Road, Madison, WI 53719, USA.

Articles citing this

Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79. Am J Hum Genet (2010) 2.95

Mutation discovery in mice by whole exome sequencing. Genome Biol (2011) 1.69

Molecular characterization of the translocation breakpoints in the Down syndrome mouse model Ts65Dn. Mamm Genome (2011) 1.47

Identification of the bovine Arachnomelia mutation by massively parallel sequencing implicates sulfite oxidase (SUOX) in bone development. PLoS Genet (2010) 1.13

Microtubule actin crosslinking factor 1 regulates the Balbiani body and animal-vegetal polarity of the zebrafish oocyte. PLoS Genet (2010) 1.08

Forward genetics uncovers Transmembrane protein 107 as a novel factor required for ciliogenesis and Sonic hedgehog signaling. Dev Biol (2012) 0.87

Exon capture and bulk segregant analysis: rapid discovery of causative mutations using high-throughput sequencing. BMC Genomics (2012) 0.83

Long-range genomic enrichment, sequencing, and assembly to determine unknown sequences flanking a known microRNA. PLoS One (2013) 0.79

Mouse resources for craniofacial research. Genesis (2011) 0.78

Kif18a is specifically required for mitotic progression during germ line development. Dev Biol (2015) 0.77

High throughput sequencing approaches to mutation discovery in the mouse. Mamm Genome (2012) 0.76

Discovery Genetics - The History and Future of Spontaneous Mutation Research. Curr Protoc Mouse Biol (2012) 0.76

Case study of sequence capture enrichment technology: identification of variation underpinning developmental syndromes in an amniote model. Genes (Basel) (2012) 0.75

Articles cited by this

Genome-wide in situ exon capture for selective resequencing. Nat Genet (2007) 19.97

Direct selection of human genomic loci by microarray hybridization. Nat Methods (2007) 17.73

Microarray-based genomic selection for high-throughput resequencing. Nat Methods (2007) 9.62

The dominant-white spotting (W) locus of the mouse encodes the c-kit proto-oncogene. Cell (1988) 7.10

Molecular bases of dominant negative and loss of function mutations at the murine c-kit/white spotting locus: W37, Wv, W41 and W. EMBO J (1990) 5.08

Applications for protein sequence-function evolution data: mRNA/protein expression analysis and coding SNP scoring tools. Nucleic Acids Res (2006) 5.02

Mouse segmental duplication and copy number variation. Nat Genet (2008) 4.24

Expression of c-kit gene products in known cellular targets of W mutations in normal and W mutant mice--evidence for an impaired c-kit kinase in mutant mice. Genes Dev (1989) 3.29

W mutant mice with mild or severe developmental defects contain distinct point mutations in the kinase domain of the c-kit receptor. Genes Dev (1990) 2.77

Analysis of pleiotropism at the dominant white-spotting (W) locus of the house mouse: a description of ten new W alleles. Genetics (1981) 2.01

The Occurrence of a Dominant Spotting Mutation in the House Mouse. Proc Natl Acad Sci U S A (1937) 1.82

A gene-driven ENU-based approach to generating an allelic series in any gene. Mamm Genome (2004) 1.82

Spontaneous mutations and mutation rates in the house mouse. Genetics (1967) 1.80

The mouse W/c-kit locus. Ciba Found Symp (1990) 1.30

Estimating the number of coding mutations in genotypic- and phenotypic-driven N-ethyl-N-nitrosourea (ENU) screens. Mamm Genome (2006) 1.24

Articles by these authors

Genome-wide in situ exon capture for selective resequencing. Nat Genet (2007) 19.97

The B73 maize genome: complexity, diversity, and dynamics. Science (2009) 18.73

Mouse genomic variation and its effect on phenotypes and gene regulation. Nature (2011) 10.66

Microarray-based genomic selection for high-throughput resequencing. Nat Methods (2007) 9.62

Comprehensive high-throughput arrays for relative methylation (CHARM). Genome Res (2008) 8.62

The genome of the domesticated apple (Malus × domestica Borkh.). Nat Genet (2010) 8.07

A high-coverage genome sequence from an archaic Denisovan individual. Science (2012) 7.89

Organismal, genetic, and transcriptional variation in the deeply sequenced gut microbiomes of identical twins. Proc Natl Acad Sci U S A (2010) 7.09

Determinants of targeting by endogenous and exogenous microRNAs and siRNAs. RNA (2007) 6.44

Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing. Genome Res (2010) 5.76

High-resolution mapping of DNA copy alterations in human chromosome 22 using high-density tiling oligonucleotide arrays. Proc Natl Acad Sci U S A (2006) 4.84

Gene expression analysis using oligonucleotide arrays produced by maskless photolithography. Genome Res (2002) 4.69

Comparative genome sequencing of Escherichia coli allows observation of bacterial evolution on a laboratory timescale. Nat Genet (2006) 4.44

Whole exome capture in solution with 3 Gbp of data. Genome Biol (2010) 4.23

Targeted RNA sequencing reveals the deep complexity of the human transcriptome. Nat Biotechnol (2011) 4.18

Acquired copy number alterations in adult acute myeloid leukemia genomes. Proc Natl Acad Sci U S A (2009) 4.17

Somatic retrotransposition alters the genetic landscape of the human brain. Nature (2011) 4.16

The genome sequence of Atlantic cod reveals a unique immune system. Nature (2011) 3.99

Identification of a nitroimidazo-oxazine-specific protein involved in PA-824 resistance in Mycobacterium tuberculosis. Proc Natl Acad Sci U S A (2005) 3.97

Arabidopsis MET1 cytosine methyltransferase mutants. Genetics (2003) 3.90

Maize inbreds exhibit high levels of copy number variation (CNV) and presence/absence variation (PAV) in genome content. PLoS Genet (2009) 3.88

Genome-wide analysis of allelic expression imbalance in human primary cells by high-throughput transcriptome resequencing. Hum Mol Genet (2010) 3.50

Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities. Genome Biol (2011) 3.09

The bonobo genome compared with the chimpanzee and human genomes. Nature (2012) 2.49

Tracking the evolution of the SARS coronavirus using high-throughput, high-density resequencing arrays. Genome Res (2004) 2.47

SNP-specific array-based allele-specific expression analysis. Genome Res (2008) 2.30

Analysis of copy number variants and segmental duplications in the human genome: Evidence for a change in the process of formation in recent evolutionary history. Genome Res (2008) 2.17

The FaceBase Consortium: a comprehensive program to facilitate craniofacial research. Dev Biol (2011) 2.16

Light-directed 5'-->3' synthesis of complex oligonucleotide microarrays. Nucleic Acids Res (2003) 2.07

Sorghum genome sequencing by methylation filtration. PLoS Biol (2005) 2.02

Selective degradation of transcripts during meiotic maturation of mouse oocytes. Dev Biol (2006) 1.95

Probing genomic diversity and evolution of Escherichia coli O157 by single nucleotide polymorphisms. Genome Res (2006) 1.87

Identification of somatic mutations in non-small cell lung carcinomas using whole-exome sequencing. Carcinogenesis (2012) 1.84

Congenic strains of mice for verification and genetic decomposition of quantitative trait loci for femoral bone mineral density. J Bone Miner Res (2003) 1.78

A comparison of cDNA, oligonucleotide, and Affymetrix GeneChip gene expression microarray platforms. J Biomol Tech (2004) 1.73

Mutation discovery in mice by whole exome sequencing. Genome Biol (2011) 1.69

Mouse consomic strains: exploiting genetic divergence between Mus m. musculus and Mus m. domesticus subspecies. Genome Res (2008) 1.66

Complex genomic alterations and gene expression in acute lymphoblastic leukemia with intrachromosomal amplification of chromosome 21. Proc Natl Acad Sci U S A (2006) 1.63

Massively parallel bisulphite pyrosequencing reveals the molecular complexity of breast cancer-associated cytosine-methylation patterns obtained from tissue and serum DNA. Genome Res (2007) 1.62

Directed evolution of ionizing radiation resistance in Escherichia coli. J Bacteriol (2009) 1.60

Congenic mice with low serum IGF-I have increased body fat, reduced bone mineral density, and an altered osteoblast differentiation program. Bone (2004) 1.53

myc maintains embryonic stem cell pluripotency and self-renewal. Differentiation (2010) 1.50

Structural variants in the soybean genome localize to clusters of biotic stress-response genes. Plant Physiol (2012) 1.48

Role of quorum sensing in the pathogenicity of Burkholderia pseudomallei. J Med Microbiol (2004) 1.47

Molecular characterization of the translocation breakpoints in the Down syndrome mouse model Ts65Dn. Mamm Genome (2011) 1.47

Development of Arabidopsis whole-genome microarrays and their application to the discovery of binding sites for the TGA2 transcription factor in salicylic acid-treated plants. Plant J (2006) 1.47

Fluorescence in situ hybridization with high-complexity repeat-free oligonucleotide probes generated by massively parallel synthesis. Chromosome Res (2011) 1.46

Phenotypic and genomic analyses of a fast neutron mutant population resource in soybean. Plant Physiol (2011) 1.45

The composition and origins of genomic variation among individuals of the soybean reference cultivar Williams 82. Plant Physiol (2010) 1.42

Transcriptional programs controlling perinatal lung maturation. PLoS One (2012) 1.41

Burkholderia thailandensis E125 harbors a temperate bacteriophage specific for Burkholderia mallei. J Bacteriol (2002) 1.36

Targeted re-sequencing of the allohexaploid wheat exome. Plant Biotechnol J (2012) 1.35

Barley whole exome capture: a tool for genomic research in the genus Hordeum and beyond. Plant J (2013) 1.34

Ultrastructural properties in cortical bone vary greatly in two inbred strains of mice as assessed by synchrotron light based micro- and nano-CT. J Bone Miner Res (2007) 1.33

Detection of clinically relevant copy number variants with whole-exome sequencing. Hum Mutat (2013) 1.32

Repeat subtraction-mediated sequence capture from a complex genome. Plant J (2010) 1.31

Complete genome sequence of Treponema pallidum ssp. pallidum strain SS14 determined with oligonucleotide arrays. BMC Microbiol (2008) 1.29

Generation of a new congenic mouse strain to test the relationships among serum insulin-like growth factor I, bone mineral density, and skeletal morphology in vivo. J Bone Miner Res (2002) 1.28

Carbonic anhydrase-related protein VIII deficiency is associated with a distinctive lifelong gait disorder in waddles mice. Genetics (2005) 1.25

Identification of novel high-frequency DNA methylation changes in breast cancer. PLoS One (2007) 1.22

Quorum sensing: a transcriptional regulatory system involved in the pathogenicity of Burkholderia mallei. Infect Immun (2004) 1.22

Congenital hypothyroidism, dwarfism, and hearing impairment caused by a missense mutation in the mouse dual oxidase 2 gene, Duox2. Mol Endocrinol (2007) 1.21

The UBX-regulated network in the haltere imaginal disc of D. melanogaster. Dev Biol (2006) 1.21

Mutagenesis as an unbiased approach to identify novel contraceptive targets. Mol Cell Endocrinol (2006) 1.20

B73-Mo17 near-isogenic lines demonstrate dispersed structural variation in maize. Plant Physiol (2011) 1.18

Quantitative trait loci that determine BMD in C57BL/6J and 129S1/SvImJ inbred mice. J Bone Miner Res (2005) 1.17

Mutational analysis and biochemical characterization of the Burkholderia thailandensis DW503 quorum-sensing network. J Bacteriol (2004) 1.15

Inheritance patterns of transcript levels in F1 hybrid mice. Genetics (2006) 1.15

Interrogating genomic diversity of E. coli O157:H7 using DNA tiling arrays. Forensic Sci Int (2006) 1.14

Distribution, functional impact, and origin mechanisms of copy number variation in the barley genome. Genome Biol (2013) 1.10

New intragenic deletions in the Phex gene clarify X-linked hypophosphatemia-related abnormalities in mice. Mamm Genome (2004) 1.10

Quantitative trait loci for BMD in an SM/J by NZB/BlNJ intercross population and identification of Trps1 as a probable candidate gene. J Bone Miner Res (2008) 1.10

Insights into the evolution of Darwin's finches from comparative analysis of the Geospiza magnirostris genome sequence. BMC Genomics (2013) 1.09

MethylMapper: a method for high-throughput, multilocus bisulfite sequence analysis and reporting. Biotechniques (2005) 1.09

Mouse gestation length is genetically determined. PLoS One (2010) 1.06

Trak1 mutation disrupts GABA(A) receptor homeostasis in hypertonic mice. Nat Genet (2005) 1.06

The podosomal-adaptor protein SH3PXD2B is essential for normal postnatal development. Mamm Genome (2009) 1.05

Automated compartmental analysis for high-throughput skeletal phenotyping in femora of genetic mouse models. Bone (2007) 1.01

A comprehensive resequence analysis of the KLK15-KLK3-KLK2 locus on chromosome 19q13.33. Hum Genet (2009) 1.01

Genetic increase in serum insulin-like growth factor-I (IGF-I) in C3H/HeJ compared with C57BL/6J mice is associated with increased transcription from the IGF-I exon 2 promoter. Endocrinology (2006) 1.00

An ENU mutagenesis screen identifies novel and known genes involved in epigenetic processes in the mouse. Genome Biol (2013) 0.97

A novel spontaneous mutation of Irs1 in mice results in hyperinsulinemia, reduced growth, low bone mass and impaired adipogenesis. J Endocrinol (2009) 0.97

Genetic evidence that thyroid hormone is indispensable for prepubertal insulin-like growth factor-I expression and bone acquisition in mice. J Bone Miner Res (2012) 0.97

The mouse mutation "thrombocytopenia and cardiomyopathy" (trac) disrupts Abcg5: a spontaneous single gene model for human hereditary phytosterolemia/sitosterolemia. Blood (2009) 0.95