🚀 Exciting update! 🧬 FORGEdb + LDlink now cover billions of new regulatory variant annotations genomebiology.biomedcentral.com/articles/10.11… GWAS sample sizes and SNP sets are rapidly growing. Regulatory variant annotation methods need to scale up to address this challenge. We're thrilled to

ArCH is a terrific new pipeline from the Bolton group for variant calling, filtering and annotation that improves the sensitivity and positive predictive value of #clonal #hematopoiesis variant detection at low allele frequencies. academic.oup.com/bioinformatics…

Online today in Nature Genetics is a multi-ancestry #GWAS of renal cell carcinoma #RCC that identifies 50 novel loci, subtype specific loci for clear cell and papillary subtypes, and an African ancestry-specific association at VHL. nature.com/articles/s4158… Cancer Epi & Genetics #NCI_ITEB

New out in Nature!! With age, women can lose one X chromosome in their leukocytes. What’s the cause/consequence? How does it differ from the loss of the Y chromosome in men? nature.com/articles/s4158… Broad Institute FinnGen FIMM HelsinkiUni National Cancer Institute Cambridge University

How do you process genotype data from almost a million women across eight biobanks each with different security restrictions? A typical approach is to concentrate the data all in one place

12% of women across 8 biobanks exhibited detectable mosaic Loss of X chromosome in >2% of blood cells. Delighted to be able to contribute to this fascinating story in nature led by Aoxing Liu Giulio Genovese Mitchell Machiela Andrea ganna John Perry & Po Ru Loh. Vanderbilt Genetics Institute

The #DNA a woman is born with may influence how her cells respond to chromosomal abnormalities acquired with aging, according to a genomic analysis co-led by NCI researchers. Learn more: go.nih.gov/YIVHKAO Cancer Epi & Genetics #CancerGenomics

Genomic investigation of Chernobyl #thyroid cancer cases finds cervical lymph node #metastases are more frequent in fusion versus mutation drivers, although the proportion varies by driver gene. No effect is found for radiation exposure. Cancer Epi & Genetics nature.com/articles/s4146…

Thanks, Safia Danovi, for a lovely "Research Highlight" in Nature Genetics about our "understanding X chromosome loss"!! 🧬🧬🧬 nature.com/articles/s4158…

Our TWAS analyses in four normal and tumor #kidney transcriptomes and 48 GTEx tissues identified several important genes with relevance to #renal cell carcinoma overall and its subtypes. sciencedirect.com/science/articl… Diptavo Dutta Stephen Chanock, MD

🚨 Online now! 📰Transcriptome- and proteome-wide association studies identify genes associated with renal cell carcinoma 🧑‍🤝‍🧑Diptavo Dutta Stephen Chanock, MD Mitchell Machiela & co cell.com/ajhg/abstract/…

Our investigation in UK Biobank identifies social, behavioral and clinical risk factors associated with clonal hematopoiesis and details differences in effect based on type of CH (e.g., CHIP, autosomal mCAs, mLOY and mLOX). aacrjournals.org/cebp/article-a…

Online in AJHG is our renal cell carcinoma (#RCC) transcriptome- and proteome-wide association study lead by Diptavo Dutta that identifies potential molecular targets for downstream functional investigation cell.com/ajhg/fulltext/… Cancer Epi & Genetics

My first career podcast interview! Couldn't be happier! 🎉🎉🎉🎉 Thank you Hannah Went TruDiagnostic ! I would like to thank Cancer Epi & Genetics, Jennifer Loukissas, Nora Franceschini and Mitchell Machiela for support and advice! youtube.com/watch?v=hL9ZFC… podcasts.apple.com/us/podcast/the… #KidneyDisease

1 week left to apply to join our statistical genetics team at the Inst Metabolic Science-Metabolic Research Labs. Junior or senior scientist opportunities available. Please get in touch if you'd like to discuss further jobs.cam.ac.uk/job/47078/