Investigator with interest in genetic epidemiology of cancer. Tweets are my own.
Rockville, MD
Joined July 2013
- Tweets268
- Following188
- Followers479
- Likes373
Mitchell Machiela retweeted
1 week left to apply to join our statistical genetics team at the @IMS_MRL. Junior or senior scientist opportunities available. Please get in touch if you'd like to discuss further jobs.cam.ac.uk/job/47078/
Mitchell Machiela retweeted
My first career podcast interview! Couldn't be happier! 🎉🎉🎉🎉 Thank you @EverythingEpi @TruDiagnostic ! I would like to thank @NCIEpiTraining, @jloukissas, @NoraFranceschi2 and @mitchiela for support and advice! youtube.com/watch?v=hL9ZFCqk… podcasts.apple.com/us/podcas… #KidneyDisease #epigenetics
Online in @AJHGNews is our renal cell carcinoma (#RCC) transcriptome- and proteome-wide association study lead by @Diptavo that identifies potential molecular targets for downstream functional investigation
cell.com/ajhg/fulltext/S0002…
@NCIEpiTraining
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/articl…
Mitchell Machiela retweeted
🚨 Online now!
📰Transcriptome- and proteome-wide association studies identify genes associated with renal cell carcinoma
🧑🤝🧑@Diptavo @NCIChanock @mitchiela & co
cell.com/ajhg/abstract/S0002…
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/ar…
@Diptavo @NCIChanock
Mitchell Machiela retweeted
Thanks, @SafiaDanovi, for a lovely "Research Highlight" in Nature Genetics about our "understanding X chromosome loss"!! 🧬🧬🧬
nature.com/articles/s41588-0…
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.
@NCIEpiTraining
nature.com/articles/s41467-0…
Online today in @Nature! We characterize age-related mosaic loss of the X chromosome (#mLOX) in 800K women, examine associations with disease risk, and identify germline variation associated with susceptibility as well as the retained X chromosome.
nature.com/articles/s41586-0…
...@pnatarajanmd @dalygene @AlexBickMDPhD @s_mccarroll @ChikashiTerao @andganna @jrbperry and many others!
As well as many terrific collaborators including @Aoxing2 @freeseek82 @ZhaoDylan @MattiPirinen @zekavatm @aikat33 @ZhiyuHas0Memory @DrFlashHeart @DerekWBrown_1 @BRGorman @joe_jgd29 @WeiyinZ @ndfreedman @bloodgenes @APalotie @HannaMOllila @ttukiainen @NCIChanock @m_reedik...
This was a tremendous effort spanning 8 international biobanks and several institutions including @theNCI @NCIEpiTraining @Cambridge_Uni @broadinstitute @FIMM_UH @FinnGen_FI @ESTbiobank @uk_biobank
Mitchell Machiela retweeted
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 @NCIEpiTraining #CancerGenomics
ALT As some women age, their white blood cells can lose a copy of chromosome X. Credit: NCI
Mitchell Machiela retweeted
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
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/s41586-0…
@broadinstitute @FinnGen_FI @FIMM_UH @theNCI @Cambridge_Uni
Mitchell Machiela retweeted
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/s41586-0…
@broadinstitute @FinnGen_FI @FIMM_UH @theNCI @Cambridge_Uni
Mitchell Machiela retweeted
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 @Aoxing2 @freeseek82 @mitchiela @andganna @jrbperry & Po Ru Loh.
@VUMCgenetics
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/s41586-0…
@broadinstitute @FinnGen_FI @FIMM_UH @theNCI @Cambridge_Uni
Online today in @NatureGenet 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/s41588-0…
@NCIEpiTraining #NCI_ITEB
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/bioinformat…
Mitchell Machiela retweeted
🚀 Exciting update! 🧬 FORGEdb + LDlink now cover billions of new regulatory variant annotations
genomebiology.biomedcentral.…
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 announce that FORGEdb + LDlink now support >100 regulatory annotations for each of over 59 million SNPs, up from 37 million SNPs! 📈 That's over 50% more data to explore and analyze from both of these petabyte-scale cloud-based systems! 🎉
These annotations are now available in LDmatrix, LDproxy and LDassoc, making it easier than ever to interrogate linkage disequilibrium and visualize results! 🔍 Annotate and prioritize regulatory variants with #FORGEdb! Explore now: forgedb.cancer.gov and ldlink.nih.gov/?tab=home #Genomics #GenomeFunction #ScienceTwitter #epigenomics #Chromatin #LDlink
h/t to my wonderful collaborators @mitchiela @NCIEpiTraining @ENCODE_NIH @IHEC_Epigenomes and @NCIChanock
🧬 Our #ENCODE4 paper is out now @GenomeBiology! Dissecting uncharted regions in our DNA and their influence on our health. 🧬
Dive into the world of disease genetics and genomic "dark matter" with us as we explore our trailblazing new method. Ready? Let’s go! 🚀 🧵 #Genomics #GenomeFunction #ScienceTwitter
doi.org/10.1186/s13059-023-0… 1/
