Author

Maki Fukami

National Research Institute for Child Health and DevelopmentORCID 0000-0001-9971-4035Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Approach:machine learning (classical)· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Akie NakamuraiD· 1 shared Akihiro UmezawaiD· 1 shared Atsuhito SekiiD· 1 shared Atsushi HattoriiD· 1 shared Atsushi HijikataiD· 1 shared Eiji NanbaiD· 1 shared Hideo SasaiiD· 1 shared Junichi HosokawaiD· 1 shared

Activity by Year

2021-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 20 mutual co-author links

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1 shared paperGenetics

Akie NakamuraORCID

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2 papers

Recent·Most cited

GenomicsNucleic Acids ResearchPeer-reviewedNov 14, 2023

Exome-wide benchmark of difficult-to-sequence regions using short-read next-generation DNA sequencing

Atsushi Hijikata, Mikita Suyama, Shingo Kikugawa…·Osamu Ohara

The paper benchmarks difficult-to-sequence regions in the human exome using machine learning and real-world NGS data from gnomAD to improve clinical sequencing accuracy.

14 citations

humanwhole-exome sequencing

GeneticsbioRxivPreprintAug 23, 2021

Pseudoautosomal gene SHOX exhibits sex-biased random monoallelic expression and contributes to sex difference in height

Atsushi Hattori, Atsuhito Seki, Naoto Inaba…·Maki Fukami

The paper identifies SHOX as a sex-biased gene with random monoallelic expression contributing to sex differences in height.

DOI 10.1101/2021.08.23.457290

humanbulk RNA-seq