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The Christmas Gift from 2020. This was a project in collaboration with very talented UNDERGRAD co-first author 🦠Tamar Av-Shalom🦠. GeneBreaker: variant simulation to improve the diagnosis of rare genetic diseases. So here’s a 🧵 pubmed.ncbi.nlm.nih.gov/33368787/

Excited to see @CatherineMBiggs and her work @UBCmedicine and BC Children's Hospital Research Institute featured as a key #HostSeq partner!

Article by ⁦⁦justine_hunter⁩ on how #genomics work done at ⁦BC Centre for Disease Control⁩ is shaping B.C.’s #COVID19 response & guiding health care decisions via ⁦The Globe and Mail⁩ #CaNCOGeN ⁦GenomeBC⁩ ⁦Genome Canada⁩ theglobeandmail.com/canada/british…

An online compendium of treatable monogenic disorders (growing by the day!), very handy resource to access evidence for rx, guidelines, trials, disease frequency. Tool found here: rx-genes.com, details 👇onlinelibrary.wiley.com/share/VDDKEADW…

WE ARE HIRING! Research Asst/Tech 3 in the Rare Disease Discovery Hub. Research to change the lives of children and families living with rare genetic conditions. Perfect job for a recent graduate with a passion for genomics and biology. Please share!! ubc.wd10.myworkdayjobs.com/ubcstaffjobs/j…

📣 Opportunity for early-career researchers: Call for applications for CANSSI Ontario STAGE HostSeq Fellowship See here for more information bit.ly/3cRFHB9 Apply online bit.ly/2TNeybJ CIHR IG IRSC U of T Public Health Temerty Medicine CGEn Genome Canada Ontario Genomics

📣📣Please share widely📣📣 Great role for a scientist with a passion for clinically impactful translational research. 1 year initial appointment but renewable. UBC Dept of Microbiology and Immunology Canadian Society for Immunology CSACI AllerGen Network BCCH Trainees

The Precision Health Initiative BC Children's Hospital Research Institute is hiring a University of British Columbia WorkLearn student (undergrad or grad) at the Research Professional Level. Includes hands-on multi-omic data analysis and knowledge translation components. Learn more here (UBC CWL req): ubc-csm.symplicity.com/students/app/j…

📢📢📢Just out in @BloodJournal today📢📢📢 We report the first human with complete deficiency of nuclear factor of activated T cells 1 (NFAT1). Human complete NFAT1 deficiency causes a triad of joint contractures, osteochondromas, and B cell malignancy ashpublications.org/blood/article/…

Ending a decade-long diagnostic odyssey for a family using RNA-seq to establish pathogenicity of a splice-region variant. Work from BC Children's Hospital Research Institute and Turvey lab. 🧵 onlinelibrary.wiley.com/doi/10.1002/aj…

📸📸With COVID disruptions, it has been a while since we have taken a Turvey lab group photo📸📸 What a privilege to work with this remarkable team! We improve child health through our research. BC Children's Hospital Research Institute @UBCPediatrics GenomeBC @UBCmedicine CHILD Cohort Study CIHR

Research can transform lives! Great story by Gord McIntyre 🇨🇦 describing our discovery of a new human immune disorder. B.C. researchers uncover previously unknown genetic condition that affects immune system vancouversun.com/news/bc-resear… via The Vancouver Sun

Is there a tool to take a merged VCF of ~500 individuals and create a "novel variant/individual added" plot? With 1 individual going to 2 there are a lot of variants. But do you get to saturation with 500 such that each new individual contributes fewer and fewer novel vars?

📢📢We are hiring📢📢 Looking for a senior post-doc/research associate with expertise in #immunology to lead our team in unravelling new human inborn errors of immunity. Our lab is in beautiful Vancouver 🇨🇦. Full details here: ubc.wd10.myworkdayjobs.com/ubcstaffjobs/j… UBC Dept of Microbiology and Immunology University of British Columbia