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Author Details
Full Name
Martin C Frith
Affiliation
Artificial Intelligence Research Center, University of Tokyo
ORCID
Career Start Year
2001
Papers
92
H Index
38
Expertise
CM4AI Collaborator
PMID
Paper Title
Journal Title
Published Year
38008286
Cost-Effective Cas9-Mediated Targeted Sequencing of Spinocerebellar Ataxia Repeat Expansions.
J Mol Diagn
2024
38008286
Cost-Effective Cas9-Mediated Targeted Sequencing of Spinocerebellar Ataxia Repeat Expansions.
J Mol Diagn
2024
36702468
How to optimally sample a sequence for rapid analysis.
Bioinformatics
2023
35617174
Improved DNA-Versus-Protein Homology Search for Protein Fossils.
IEEE/ACM Trans Comput Biol Bioinform
2023
38085182
DNA Conserved in Diverse Animals Since the Precambrian Controls Genes for Embryonic Development.
Mol Biol Evol
2023
37286232
Biallelic structural variations within <i>FGF12</i> detected by long-read sequencing in epilepsy.
Life Sci Alliance
2023
36818731
An immune-suppressing protein in human endogenous retroviruses.
Bioinform Adv
2023
36702468
How to optimally sample a sequence for rapid analysis.
Bioinformatics
2023
36941762
A new layer of complexity in the human genome: Somatic recombination of repeat elements.
Clin Transl Med
2023
36781728
Finding Rearrangements in Nanopore DNA Reads with LAST and dnarrange.
Methods Mol Biol
2023
36781727
Analysis of Tandem Repeat Expansions Using Long DNA Reads.
Methods Mol Biol
2023
38085182
DNA Conserved in Diverse Animals Since the Precambrian Controls Genes for Embryonic Development.
Mol Biol Evol
2023
35617174
Improved DNA-Versus-Protein Homology Search for Protein Fossils.
IEEE/ACM Trans Comput Biol Bioinform
2023
37286232
Biallelic structural variations within <i>FGF12</i> detected by long-read sequencing in epilepsy.
Life Sci Alliance
2023
36818731
An immune-suppressing protein in human endogenous retroviruses.
Bioinform Adv
2023
36781728
Finding Rearrangements in Nanopore DNA Reads with LAST and dnarrange.
Methods Mol Biol
2023
36781727
Analysis of Tandem Repeat Expansions Using Long DNA Reads.
Methods Mol Biol
2023
36941762
A new layer of complexity in the human genome: Somatic recombination of repeat elements.
Clin Transl Med
2023
35882231
Recombination of repeat elements generates somatic complexity in human genomes.
Cell
2022
35882231
Recombination of repeat elements generates somatic complexity in human genomes.
Cell
2022
33289891
lamassemble: Multiple Alignment and Consensus Sequence of Long Reads.
Methods Mol Biol
2021
34078885
Discovery of widespread transcription initiation at microsatellites predictable by sequence-based deep neural network.
Nat Commun
2021
33693858
Significant non-existence of sequences in genomes and proteomes.
Nucleic Acids Res
2021
33510365
Long-read whole-genome sequencing identified a partial MBD5 deletion in an exome-negative patient with neurodevelopmental disorder.
J Hum Genet
2021
33346833
Minimally overlapping words for sequence similarity search.
Bioinformatics
2021
33289891
lamassemble: Multiple Alignment and Consensus Sequence of Long Reads.
Methods Mol Biol
2021
33413375
Genome-wide survey of tandem repeats by nanopore sequencing shows that disease-associated repeats are more polymorphic in the general population.
BMC Med Genomics
2021
33510365
Long-read whole-genome sequencing identified a partial MBD5 deletion in an exome-negative patient with neurodevelopmental disorder.
J Hum Genet
2021
33693858
Significant non-existence of sequences in genomes and proteomes.
Nucleic Acids Res
2021
34078885
Discovery of widespread transcription initiation at microsatellites predictable by sequence-based deep neural network.
Nat Commun
2021
33346833
Minimally overlapping words for sequence similarity search.
Bioinformatics
2021
33413375
Genome-wide survey of tandem repeats by nanopore sequencing shows that disease-associated repeats are more polymorphic in the general population.
BMC Med Genomics
2021
32296131
Long-read DNA sequencing fully characterized chromothripsis in a patient with Langer-Giedion syndrome and Cornelia de Lange syndrome-4.
J Hum Genet
2020
32066831
Long-read sequencing identifies the pathogenic nucleotide repeat expansion in RFC1 in a Japanese case of CANVAS.
J Hum Genet
2020
32296131
Long-read DNA sequencing fully characterized chromothripsis in a patient with Langer-Giedion syndrome and Cornelia de Lange syndrome-4.
J Hum Genet
2020
32731881
A pipeline for complete characterization of complex germline rearrangements from long DNA reads.
Genome Med
2020
32066831
Long-read sequencing identifies the pathogenic nucleotide repeat expansion in RFC1 in a Japanese case of CANVAS.
J Hum Genet
2020
32731881
A pipeline for complete characterization of complex germline rearrangements from long DNA reads.
Genome Med
2020
30689855
NanoPipe-a web server for nanopore MinION sequencing data analysis.
Gigascience
2019
30462165
Evaluation and application of RNA-Seq by MinION.
DNA Res
2019
30689855
NanoPipe-a web server for nanopore MinION sequencing data analysis.
Gigascience
2019
30890163
Tandem-genotypes: robust detection of tandem repeat expansions from long DNA reads.
Genome Biol
2019
31332381
Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease.
Nat Genet
2019
31332381
Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease.
Nat Genet
2019
30890163
Tandem-genotypes: robust detection of tandem repeat expansions from long DNA reads.
Genome Biol
2019
30462165
Evaluation and application of RNA-Seq by MinION.
DNA Res
2019
29272440
A survey of localized sequence rearrangements in human DNA.
Nucleic Acids Res
2018
29994365
A Simplified Description of Child Tables for Sequence Similarity Search.
IEEE/ACM Trans Comput Biol Bioinform
2018
30412317
Biallelic COLGALT1 variants are associated with cerebral small vessel disease.
Ann Neurol
2018
29272440
A survey of localized sequence rearrangements in human DNA.
Nucleic Acids Res
2018
1 - 50 of 184
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