MISHIMA, Hiroyuki @mishima_eng
en_JP of @mishimahryk. Assistant Professor at Dept. of Human Genetics, Nagasaki Univ., Japan. Attributes: Next Gen Seq/Ruby/Bioinformatics/Rare Diseases/Dentist github.com/misshie Nagasaki, Japan Joined June 2012-
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MISHIMA, Hiroyuki retweeted
congrats to @thsieh_tw @avirambh and all the coauthors! Thanks for the great collaboration!
congrats to @thsieh_tw @avirambh and all the coauthors! Thanks for the great collaboration!
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MISHIMA, Hiroyuki retweeted
@mishima_eng Nice paper by George.
MISHIMA, Hiroyuki retweeted
Structural variation in the sequencing era go.nature.com/2NP87PX #Review by Steve S. Ho, Alexander E. Urban & Ryan E. Mills
MISHIMA, Hiroyuki retweeted
What a great time at #apchg2019 with poster presentations featuring #Face2Gene CLINIC & LABS. Proud of our expanding global alliance of research in the Asia pacific region & the positive impact #NGP technologies have in supporting diagnosis of genetic disease.
MISHIMA, Hiroyuki retweeted
A special issue of @ScienceMagazine recently "examined the complexity of translating #genotype to #phenotype, including how varied environments may affect the developing phenotype.” Learn more at science.sciencemag.org/content/365/64… #health
A new paper by Zarate et al. discussing our results using Face2gene in Japan: nature.com/articles/s1003…
MISHIMA, Hiroyuki retweeted
An impressive paper published today in @SpringerNature w/ more evidence on how DeepGestalt & next-generation phenotyping are improving molecular diagnostics & variant analysis. Congratulations to the team that worked on this, a wonderful accomplishment! go.nature.com/2Y3jXbq
MISHIMA, Hiroyuki retweeted
🎉🎉🎉 Release CWL v1.1 · common-workflow-language/cwl-v1.1 github.com/common-workflo…
MISHIMA, Hiroyuki retweeted
Heads up! The BioHackathon proposal submission deadline is tomorrow, 8th June! 2019.biohackathon.org/proposals
MISHIMA, Hiroyuki retweeted
Here’s a reason to submit a proposal: The one-week hackathon will take place in Fukuoka, the birthplace of Tonkotsu Ramen where a bunch of great ramen restaurants are 🍜🍜🍜 japantimes.co.jp/life/2016/09/1…
MISHIMA, Hiroyuki retweeted
This year’s #BioHackathon #biohack19 in Japan is calling for hacking proposals now! One person per accepted proposal will get full or partial travel funding. Don’t miss it, please RT! groups.google.com/forum/m/#!topi…
MISHIMA, Hiroyuki retweeted
In the PEDIA paper, we describe how results from Face2Gene can be used in lab rdcu.be/bFByG
MISHIMA, Hiroyuki retweeted
And just today, we made a new @hp_ontology release. Official announcement later to come.
And just today, we made a new @hp_ontology release. Official announcement later to come.
Read my latest #research on evaluation of #Face2Gene using patients in Japan, published with @SpringerNature in Journal of Human Genetics doi.org/10.1038/s10038… (SharedIt rdcu.be/bENvg )
A new co-1st paper was published: Patients with SATB2‐associated syndrome exhibiting multiple odontomas Am J Med Genet A onlinelibrary.wiley.com/doi/abs/10.100…
For better advertisement, I add hashtags! #AmpliSeq #MiSeq #HiSeq #Illumina nature.com/articles/s1003… Detection of de novo single nucleotide variants in offspring of atomic-bomb survivors close to the hypocenter by whole-genome sequencing
For better advertisement, I add hashtags! #AmpliSeq #MiSeq #HiSeq #Illumina nature.com/articles/s1003… Detection of de novo single nucleotide variants in offspring of atomic-bomb survivors close to the hypocenter by whole-genome sequencing
In the following paper, we also described a technique to prepare Illumina libraries using AmpliSeq amplicons: nature.com/articles/s1003…
MISHIMA, Hiroyuki retweeted
Detection of de novo single nucleotide variants in offspring of atomic-bomb survivors close to the hypocenter by whole-genome sequencing. dlvr.it/Q7wnNP
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