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Author Details

Martin C Frith
Artificial Intelligence Research Center, University of Tokyo
2001
92
38
PMIDPaper TitleJournal TitlePublished Year
38008286Cost-Effective Cas9-Mediated Targeted Sequencing of Spinocerebellar Ataxia Repeat Expansions.J Mol Diagn2024
38008286Cost-Effective Cas9-Mediated Targeted Sequencing of Spinocerebellar Ataxia Repeat Expansions.J Mol Diagn2024
36702468How to optimally sample a sequence for rapid analysis.Bioinformatics2023
35617174Improved DNA-Versus-Protein Homology Search for Protein Fossils.IEEE/ACM Trans Comput Biol Bioinform2023
38085182DNA Conserved in Diverse Animals Since the Precambrian Controls Genes for Embryonic Development.Mol Biol Evol2023
37286232Biallelic structural variations within <i>FGF12</i> detected by long-read sequencing in epilepsy.Life Sci Alliance2023
36818731An immune-suppressing protein in human endogenous retroviruses.Bioinform Adv2023
36702468How to optimally sample a sequence for rapid analysis.Bioinformatics2023
36941762A new layer of complexity in the human genome: Somatic recombination of repeat elements.Clin Transl Med2023
36781728Finding Rearrangements in Nanopore DNA Reads with LAST and dnarrange.Methods Mol Biol2023
36781727Analysis of Tandem Repeat Expansions Using Long DNA Reads.Methods Mol Biol2023
38085182DNA Conserved in Diverse Animals Since the Precambrian Controls Genes for Embryonic Development.Mol Biol Evol2023
35617174Improved DNA-Versus-Protein Homology Search for Protein Fossils.IEEE/ACM Trans Comput Biol Bioinform2023
37286232Biallelic structural variations within <i>FGF12</i> detected by long-read sequencing in epilepsy.Life Sci Alliance2023
36818731An immune-suppressing protein in human endogenous retroviruses.Bioinform Adv2023
36781728Finding Rearrangements in Nanopore DNA Reads with LAST and dnarrange.Methods Mol Biol2023
36781727Analysis of Tandem Repeat Expansions Using Long DNA Reads.Methods Mol Biol2023
36941762A new layer of complexity in the human genome: Somatic recombination of repeat elements.Clin Transl Med2023
35882231Recombination of repeat elements generates somatic complexity in human genomes.Cell2022
35882231Recombination of repeat elements generates somatic complexity in human genomes.Cell2022
33289891lamassemble: Multiple Alignment and Consensus Sequence of Long Reads.Methods Mol Biol2021
34078885Discovery of widespread transcription initiation at microsatellites predictable by sequence-based deep neural network.Nat Commun2021
33693858Significant non-existence of sequences in genomes and proteomes.Nucleic Acids Res2021
33510365Long-read whole-genome sequencing identified a partial MBD5 deletion in an exome-negative patient with neurodevelopmental disorder.J Hum Genet2021
33346833Minimally overlapping words for sequence similarity search.Bioinformatics2021
33289891lamassemble: Multiple Alignment and Consensus Sequence of Long Reads.Methods Mol Biol2021
33413375Genome-wide survey of tandem repeats by nanopore sequencing shows that disease-associated repeats are more polymorphic in the general population.BMC Med Genomics2021
33510365Long-read whole-genome sequencing identified a partial MBD5 deletion in an exome-negative patient with neurodevelopmental disorder.J Hum Genet2021
33693858Significant non-existence of sequences in genomes and proteomes.Nucleic Acids Res2021
34078885Discovery of widespread transcription initiation at microsatellites predictable by sequence-based deep neural network.Nat Commun2021
33346833Minimally overlapping words for sequence similarity search.Bioinformatics2021
33413375Genome-wide survey of tandem repeats by nanopore sequencing shows that disease-associated repeats are more polymorphic in the general population.BMC Med Genomics2021
32296131Long-read DNA sequencing fully characterized chromothripsis in a patient with Langer-Giedion syndrome and Cornelia de Lange syndrome-4.J Hum Genet2020
32066831Long-read sequencing identifies the pathogenic nucleotide repeat expansion in RFC1 in a Japanese case of CANVAS.J Hum Genet2020
32296131Long-read DNA sequencing fully characterized chromothripsis in a patient with Langer-Giedion syndrome and Cornelia de Lange syndrome-4.J Hum Genet2020
32731881A pipeline for complete characterization of complex germline rearrangements from long DNA reads.Genome Med2020
32066831Long-read sequencing identifies the pathogenic nucleotide repeat expansion in RFC1 in a Japanese case of CANVAS.J Hum Genet2020
32731881A pipeline for complete characterization of complex germline rearrangements from long DNA reads.Genome Med2020
30689855NanoPipe-a web server for nanopore MinION sequencing data analysis.Gigascience2019
30462165Evaluation and application of RNA-Seq by MinION.DNA Res2019
30689855NanoPipe-a web server for nanopore MinION sequencing data analysis.Gigascience2019
30890163Tandem-genotypes: robust detection of tandem repeat expansions from long DNA reads.Genome Biol2019
31332381Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease.Nat Genet2019
31332381Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease.Nat Genet2019
30890163Tandem-genotypes: robust detection of tandem repeat expansions from long DNA reads.Genome Biol2019
30462165Evaluation and application of RNA-Seq by MinION.DNA Res2019
29272440A survey of localized sequence rearrangements in human DNA.Nucleic Acids Res2018
29994365A Simplified Description of Child Tables for Sequence Similarity Search.IEEE/ACM Trans Comput Biol Bioinform2018
30412317Biallelic COLGALT1 variants are associated with cerebral small vessel disease.Ann Neurol2018
29272440A survey of localized sequence rearrangements in human DNA.Nucleic Acids Res2018
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Collaborators

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Co-authored papers 13
University of Massachusetts Medical School
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Australia UNSW RNA Institute
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Folkhalsan Research Center
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Co-authored papers 7
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Okinawa Institute of Science and Technology Graduate University
Co-authored papers 6
Mater Research Institute-UQ, Translational Research Institute
Co-authored papers 6
University of Copenhagen
Co-authored papers 6
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Co-authored papers 5
Graduate School of Medicine, Osaka University
Co-authored papers 5
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Co-authored papers 5
MRC London Institute of Medical Sciences
Co-authored papers 5
The University of Melbourne
Co-authored papers 5
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Co-authored papers 5
Istituto Italiano di Tecnologia
Co-authored papers 4
The Jackson Laboratory Cancer Center
Co-authored papers 4
King Abdullah University of Science and Technology (KAUST)
Co-authored papers 4
The University of Melbourne
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