A pipeline for complete characterization of complex germline rearrangements from long DNA reads
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Martin C. Frith | Kazutaka Katoh | Naomichi Matsumoto | M. Frith | K. Katoh | N. Matsumoto | S. Mitsuhashi | S. Ohori | Satomi Mitsuhashi | Sachiko Ohori
[1] M. Frith,et al. Long-read DNA sequencing fully characterized chromothripsis in a patient with Langer–Giedion syndrome and Cornelia de Lange syndrome-4 , 2020, Journal of Human Genetics.
[2] M. Frith,et al. Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease , 2019, Nature Genetics.
[3] Leon Di Stefano,et al. Comprehensive evaluation and characterisation of short read general-purpose structural variant calling software , 2019, Nature Communications.
[4] C. Shaw,et al. Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2 , 2019, Cell.
[5] F. Vezzi,et al. Comprehensive structural variation genome map of individuals carrying complex chromosomal rearrangements , 2019, PLoS genetics.
[6] Evan E. Eichler,et al. Characterizing the Major Structural Variant Alleles of the Human Genome , 2019, Cell.
[7] Andrew R. Webster,et al. Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing , 2018, Genome Medicine.
[8] Martin C Frith,et al. A survey of localized sequence rearrangements in human DNA , 2017, Nucleic acids research.
[9] R. Shamir,et al. Reconstructing cancer karyotypes from short read data: the half empty and half full glass , 2017, BMC Bioinformatics.
[10] G. Lunter,et al. A high throughput screen for active human transposable elements , 2017, BMC Genomics.
[11] Michael C. Schatz,et al. Accurate detection of complex structural variations using single molecule sequencing , 2017, Nature Methods.
[12] B. Schmidt,et al. CLOVE: classification of genomic fusions into structural variation events , 2017, BMC Bioinformatics.
[13] Tam P. Sneddon,et al. Long-read genome sequencing identifies causal structural variation in a Mendelian disease , 2017, Genetics in Medicine.
[14] Edwin Cuppen,et al. Mapping and phasing of structural variation in patient genomes using nanopore sequencing , 2017, Nature Communications.
[15] Ryan L. Collins,et al. Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome , 2017, Genome Biology.
[16] Kiyoshi Asai,et al. Training alignment parameters for arbitrary sequencers with LAST-TRAIN , 2016, Bioinform..
[17] J. Kidd,et al. Discovery of unfixed endogenous retrovirus insertions in diverse human populations , 2016, Proceedings of the National Academy of Sciences.
[18] Gabor T. Marth,et al. An integrated map of structural variation in 2,504 human genomes , 2015, Nature.
[19] M. Frith,et al. Split-alignment of genomes finds orthologies more accurately , 2015, Genome Biology.
[20] Satoru Miyano,et al. Inferring the global structure of chromosomes from structural variations , 2015, BMC Genomics.
[21] Naomichi Matsumoto,et al. Precise detection of chromosomal translocation or inversion breakpoints by whole-genome sequencing , 2014, Journal of Human Genetics.
[22] Alexander Kanapin,et al. Unfixed Endogenous Retroviral Insertions in the Human Population , 2014, Journal of Virology.
[23] Li Ding,et al. Retrotransposition of gene transcripts leads to structural variation in mammalian genomes , 2013, Genome Biology.
[24] M. Frith,et al. Mammalian NUMT insertion is non-random , 2012, Nucleic acids research.
[25] Markus J. van Roosmalen,et al. Constitutional chromothripsis rearrangements involve clustered double-stranded DNA breaks and nonhomologous repair mechanisms. , 2012, Cell reports.
[26] Benjamin J. Raphael,et al. Reconstructing cancer genomes from paired-end sequencing data , 2012, BMC Bioinformatics.
[27] H. Kazazian,et al. Pathogenic orphan transduction created by a nonreference LINE‐1 retrotransposon , 2012, Human mutation.
[28] N. Matsumoto,et al. Early infantile epileptic encephalopathy associated with the disrupted gene encoding Slit‐Robo Rho GTPase activating protein 2 (SRGAP2) , 2012, American journal of medical genetics. Part A.
[29] Adrian M. Stütz,et al. A Comprehensive Map of Mobile Element Insertion Polymorphisms in Humans , 2011, PLoS genetics.
[30] Markus J. van Roosmalen,et al. Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline. , 2011, Human molecular genetics.
[31] Y. Fukushima,et al. Breakpoint determination of X;autosome balanced translocations in four patients with premature ovarian failure , 2011, Journal of Human Genetics.
[32] J. Lupski,et al. Mechanisms of change in gene copy number , 2009, Nature Reviews Genetics.
[33] N. Matsumoto,et al. Characterization of the complex 7q21.3 rearrangement in a patient with bilateral split‐foot malformation and hearing loss , 2009, American journal of medical genetics. Part A.
[34] S. Nussey,et al. The association of primary hyperparathyroidism and primary ovarian failure: a de novo t(X; 2) (q22p13) reciprocal translocation. , 2008, European journal of endocrinology.
[35] L. Symington,et al. Template switching during break-induced replication , 2007, Nature.
[36] Ryan E. Mills,et al. Which transposable elements are active in the human genome? , 2007, Trends in genetics : TIG.
[37] N. Niikawa,et al. Subtelomere specific microarray based comparative genomic hybridisation: a rapid detection system for cryptic rearrangements in idiopathic mental retardation , 2004, Journal of Medical Genetics.
[38] W S Watkins,et al. Large-scale analysis of the Alu Ya5 and Yb8 subfamilies and their contribution to human genomic diversity. , 2001, Journal of molecular biology.
[39] Kazutaka Katoh,et al. lamassemble: Multiple Alignment and Consensus Sequence of Long Reads. , 2021, Methods in molecular biology.
[40] J. V. Moran,et al. The Influence of LINE-1 and SINE Retrotransposons on Mammalian Genomes , 2015, Microbiology spectrum.
[41] Hilde van der Togt,et al. Publisher's Note , 2003, J. Netw. Comput. Appl..