PacBio-LITS: a large-insert targeted sequencing method for characterization of human disease-associated chromosomal structural variations

[1]  P. Stankiewicz,et al.  The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles. , 2014, American journal of human genetics.

[2]  W. Salerno,et al.  PBHoney: identifying genomic variants via long-read discordance and interrupted mapping , 2014, BMC Bioinformatics.

[3]  Vineet Bafna,et al.  Amplification and thrifty single-molecule sequencing of recurrent somatic structural variations , 2014, Genome research.

[4]  J. Rosenfeld,et al.  NAHR-mediated copy-number variants in a clinical population: Mechanistic insights into both genomic disorders and Mendelizing traits , 2013, Genome research.

[5]  Yiping Shen,et al.  Increased genome instability in human DNA segments with self-chains: homology-induced structural variations via replicative mechanisms. , 2013, Human molecular genetics.

[6]  Anna Gambin,et al.  Inverted Low‐Copy Repeats and Genome Instability—A Genome‐Wide Analysis , 2013, Human mutation.

[7]  Sarah McCalmon,et al.  Sequencing the unsequenceable: Expanded CGG-repeat alleles of the fragile X gene , 2013, Genome research.

[8]  Tyson A. Clark,et al.  Genome-wide mapping of methylated adenine residues in pathogenic Escherichia coli using single-molecule real-time sequencing , 2012, Nature Biotechnology.

[9]  Kenny Q. Ye,et al.  An integrated map of genetic variation from 1,092 human genomes , 2012, Nature.

[10]  Glenn Tesler,et al.  Mapping single molecule sequencing reads using basic local alignment with successive refinement (BLASR): application and theory , 2012, BMC Bioinformatics.

[11]  Pengfei Liu,et al.  Mechanisms for recurrent and complex human genomic rearrangements. , 2012, Current opinion in genetics & development.

[12]  D. Pehlivan,et al.  Evidence for disease penetrance relating to CNV size: Pelizaeus–Merzbacher disease and manifesting carriers with a familial 11 Mb duplication at Xq22 , 2012, Clinical genetics.

[13]  J. Lupski,et al.  Frequency of nonallelic homologous recombination is correlated with length of homology: evidence that ectopic synapsis precedes ectopic crossing-over. , 2011, American journal of human genetics.

[14]  J. Lupski,et al.  Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome , 2011, Nature Genetics.

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

[16]  Sharon R Grossman,et al.  Integrating common and rare genetic variation in diverse human populations , 2010, Nature.

[17]  J. Lupski,et al.  Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS. , 2010, American journal of human genetics.

[18]  Yong-shu He,et al.  [Structural variation in the human genome]. , 2009, Yi chuan = Hereditas.

[19]  Kenny Q. Ye,et al.  Sensitive and accurate detection of copy number variants using read depth of coverage. , 2009, Genome research.

[20]  J. Lupski,et al.  Mechanisms of change in gene copy number , 2009, Nature Reviews Genetics.

[21]  J. Lupski,et al.  The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans , 2009, Nature Genetics.

[22]  J. Lupski,et al.  A Microhomology-Mediated Break-Induced Replication Model for the Origin of Human Copy Number Variation , 2009, PLoS genetics.

[23]  Antony V. Cox,et al.  Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing , 2008, Nature Genetics.

[24]  J. Lupski,et al.  A DNA Replication Mechanism for Generating Nonrecurrent Rearrangements Associated with Genomic Disorders , 2007, Cell.

[25]  Philip M. Kim,et al.  Paired-End Mapping Reveals Extensive Structural Variation in the Human Genome , 2007, Science.

[26]  Lorraine Potocki,et al.  Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype. , 2007, American journal of human genetics.

[27]  David C. Schwartz,et al.  DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage , 2006, Nature.

[28]  K. Gunderson,et al.  A genome-wide scalable SNP genotyping assay using microarray technology , 2005, Nature Genetics.

[29]  E. Lander,et al.  Finishing the euchromatic sequence of the human genome , 2004 .

[30]  J. Bonfield,et al.  Finishing the euchromatic sequence of the human genome , 2004, Nature.

[31]  L. Feuk,et al.  Detection of large-scale variation in the human genome , 2004, Nature Genetics.

[32]  S. P. Fodor,et al.  Large-scale genotyping of complex DNA , 2003, Nature Biotechnology.

[33]  K. Chin,et al.  End-sequence profiling: Sequence-based analysis of aberrant genomes , 2003, Proceedings of the National Academy of Sciences of the United States of America.

[34]  L. Shaffer,et al.  Genome architecture catalyzes nonrecurrent chromosomal rearrangements. , 2003, American journal of human genetics.

[35]  S. Weissman,et al.  Selective enrichment of a large size genomic DNA fragment by affinity capture: an approach for genome mapping. , 1990, Nucleic acids research.

[36]  S. Turner,et al.  Real-time DNA sequencing from single polymerase molecules. , 2010, Methods in enzymology.

[37]  International Human Genome Sequencing Consortium Finishing the euchromatic sequence of the human genome , 2004 .

[38]  L. Shaffer,et al.  Molecular mechanism for duplication 17p11.2— the homologous recombination reciprocal of the Smith-Magenis microdeletion , 2000, Nature Genetics.