packed house here at #ASHG2023 for our Michigan/TOPMed Imputation Server workshop 🙏.
In case you missed it, slides and materials are available here: imputationserver.readthedocs.io/en/latest/work… Saori Sakaue Lukas Forer Albert Vernon Smith
Glad to announce deep and large-scale target sequencing🧬of killer immunoglobulin-like receptor (KIR) genes and KIR imputation💻 in Japanese by Saori Sakaue, now at Cell Genomics cell.com/cell-genomics/… #Immunity #Bioinformatics #HLA
miRNA eQTL database of Japanese is now at Human Molecular Genetics!! miRNA-eQTL mapping (SNV, indel, CNV), allele-specific expression, miRNA editing events, TWAS for biomarker miRNA screening. By Kyuto Sonehara & Saori Sakaue. doi.org/10.1093/hmg/dd… #eQTL #miRNA #TWAS
#ASHG Interested in the genetic regulation of HLA expression? Come check out our single-cell eQTL study of more than 1.14 million immune cells today at 3pm (PB2635)! 🧬
w/ Soumya Raychaudhuri সৌম্য রায়চৌধুরী Yang Luo Saori Sakaue + others
a beautiful paper on atlas of genetic associations of 220 phenotypes between east asian and european of ~800K inds from Saori Sakaue, Masahiro Kanai YukinoriOkada and colleagues including HLA fine-mapping! medrxiv.org/content/10.110…. full summary stats from:pheweb.jp
Saori Sakaue Nature Genetics Wonderful paper! Our lincNORS (miR193BHG shows up nicely in connection with height but has a new association, PP (pulse pressure). GWAS_lit GWAS Library GWAS Catalog Shizuka Uchida lncRNA Nature Reviews Genetics 49 GWAS studies and counting, yet only one functional paper.
GWAS of 5.4 millions discovered a saturated map of common variants on height. Now at turning point of GWAS era. Wonderful teams with Loïc Yengo Sailaja Vedantam Eirini Marouli Eric Bartell Saori Sakaue Guillaume Lettre Andy Wood Peter Visscher Joel Hirschhorn
nature.com/articles/s4158…
How does the imputation server work? What’s new? Join us on Nov 15 @
learning.ashg.org/ashgforumagenda for a deep dive. Lukas Forer Sebastian Schönherr Xueling Sim Saori Sakaue Albert Vernon Smith and Christian Fuchsberger
are excited to answer all your questions. #ASHG22
Now this beautiful paper is in press with a beautiful front cover!nature.com/articles/s4158… congrats to many of my awesome colleagues Saori Sakaue, Masahiro Kanai,Kazuyoshi Ishigaki,YukinoriOkada
Now online from Saori Sakaue Soumya Raychaudhuri সৌম্য রায়চৌধুরী lab..Tissue-specific enhancer-gene maps from multimodal single-cell data identify causal disease alleles medrxiv.org/content/10.110…
We look forward to sharing our insights on MIS @ #ASHG23 on Nov 1 ashg.org/meetings/2023m… Sebastian Schönherr Lukas Forer Saori Sakaue Albert Vernon Smith Xueling Sim and Christian Fuchsberger will be your lecturer. Questions, topics to be covered still welcome.
Proud to have led this study with Saori Sakaue in collaboration with YukinoriOkada Mark Daly Aarno Palotie Yosuke Tanigawa Manuel Rivas and many others! Please check out our pheweb.jp website for all the BBJ summary statistics
Saori Sakaue Nature Genetics It’s an important piece of work and congrats on getting it out. But you might want to reconsider the use of the term diversity since it could be rather painful for populations that are severely underrepresented in genetic studies.
Accurate enhancer-gene map using #scATACseq and #scRNAseq . Great work from Saori Sakaue, Soumya Raychaudhuri সৌম্য রায়চৌধুরী, and colleagues.
Our latest GWAS paper for rheumatoid arthritis and exciting stories about each locus we discovered (e.g., sQTL by long-read RNA-seq, TFs, disease prediction etc.) are now out in Nature Genetics !🥳 We recommend using this latest summary statistics for your genetic analyses📣
Hot off the press!🔥We tackled the challenge of defining causal variants and genes in complex diseases by #GWAS and single-cell multiomics.
Delighted that our statistical method SCENT is now published in Nature Genetics with Soumya Raychaudhuri সৌম্য রায়চৌধুরী✨⭐️
nature.com/articles/s4158…
Tweetorial👇
A global atlas of genetic associations of 220 deep phenotypes
Saori Sakaue et al
medrxiv.org/content/10.110…
Excited to share this work by Saori Sakaue and others on linking peaks to genes from 10x multiome data.