Thrilled to share our new @natcomms.nature.com paper on local ancestry informed allele frequencies in gnomAD, which are live now on the browser! Check out my stellar PhD student @pragskore.bsky.socialβs Bluetorial on how this brings finer detail to variant interpretation π§¬π₯οΈ
06.10.2025 18:44 β π 14 π 4 π¬ 1 π 0
The basis of expert intuition
Have you ever thought about what makes someone an βexpertβ at something? Is it their ability to carefully and correctly respond to a scenario, or is it their ability to complete a task intuitively and...
How do experts gain intuition?π‘
I argue:
1. expert intuition (βfastβ) = pattern-matching on past experiences
2. careful reasoning (βslowβ) = confronting a new scenario with step-wise thinking
3. wise decision-making toggles between both styles
Read the new post: tinyurl.com/28tb33fc
04.10.2025 20:49 β π 2 π 1 π¬ 0 π 0
Check it out! And huge shout out to the amazing team: @carlawinter.bsky.social, @kaitavjeet.bsky.social, Deb Plana, Preston Ge, and Dan Rubin
We welcome any and all thoughts and ideas π‘
20.08.2025 23:50 β π 0 π 0 π¬ 0 π 0
The case for abstraction in biology
One of the most challenging questions in all of biology is how to make sense of complex systems. This question is becoming increasingly relevant as advances in sequencing technologies decrease the cos...
After years of chats, friends from my MD/PhD program and I launched a nerdy blog about science + medicine.
We explore everything from evolutionary theory to big data in science. @kaitavjeet.bsky.social just posted on the power of abstraction in biology π§«
emergentpropertiesblog.com/2025/08/19/a...
20.08.2025 23:50 β π 4 π 2 π¬ 1 π 0
Thanks for the post @whansi.bsky.social!!
31.05.2025 16:47 β π 0 π 0 π¬ 0 π 0
Amazing collaboration with folks from the groups of Vamsi Mootha and Ben Neale at @broadinstitute.org @mgbresearch.bsky.social @harvardmed.bsky.social
31.05.2025 16:45 β π 0 π 0 π¬ 1 π 0
In addition to the deep dive into mtDNA mutation accrual, our 750k dataset provides additional power for GWAS for mtDNA copy number and common indel heteroplasmies, yielding new insights into nuclear influences over mtDNA.
31.05.2025 16:45 β π 0 π 0 π¬ 1 π 0
Plot showing an increase in mitochondrial DNA heteroplasmic SNV count as a function of age.
Using population and statistical genetics across 750,000 people, we believe we have identified a putative mechanism for an important aging biomarker: the apparent age-related mtDNA mutation accrual in blood. Very excited this is up!
broad.io/7b3tuy
31.05.2025 16:45 β π 4 π 2 π¬ 3 π 0
Final_Version_of_Tarrifs_actualFINALcopy_version7_USETHISONE.docx
09.04.2025 18:39 β π 23581 π 4935 π¬ 292 π 240
White House says no one will be fired over the Signal scandal because no one involved was trying to cure cancer.
24.03.2025 21:54 β π 14455 π 3042 π¬ 193 π 84
There are days in life that shake you.
Iβm shattered π to share that I just found out that the US Government terminated my 2024 NIH Directorβs Early Independence Award (~$2 million), threatening my long-promised assistant professor job at Columbia University
& academic career... 1/π§΅
18.03.2025 23:27 β π 2003 π 836 π¬ 94 π 93
Hereβs Elon cutting pediatric brain cancer research ππ»
15.03.2025 21:24 β π 6097 π 2300 π¬ 162 π 72
New preprint from the lab! π¨
π§« New galactose #CRISPR screening strategy
π― 481 genes required for #OXPHOS
βοΈ #FAM136A in IMS proteostasis
πMito defects in #Menieres disease
by @marcellharhai.bsky.social @fbm-unil.bsky.social
A short thread 1/5
www.biorxiv.org/content/10.1...
30.01.2025 07:58 β π 38 π 20 π¬ 5 π 5
Would love to be added if possible!
27.11.2024 22:45 β π 2 π 0 π¬ 1 π 0
Honored to be on this list, I appreciate it!!
20.11.2024 12:36 β π 0 π 0 π¬ 1 π 0
This is great!
Iβm a final year MD/PhD student at Harvard. I did my PhD studying the common nuclear genetic influences on the mitochondria and mitochondrial DNA.
Iβm excited about the use of molecular phenotypes with human genetics to understand basic disease mechanisms.
14.11.2024 04:03 β π 8 π 1 π¬ 0 π 0
We amplify voices on the issues that matter to you. Read on: https://www.nytimes.com/section/opinion
Mitochondria and brain fan
MD/PhD candidate at Harvard/MIT || Heiman lab at MIT || previously at JohnsHopkins
Study genetic conflicts professionally. Try to avoid conflicts in personal life (with mixed results).
Fred Hutch Basic Sciences,
UW Genome Sciences,
HHMI.
Posting in a personal capacity. My posts donβt reflect my employersβ opinions.
Geneticistβ¦trying to make what we do useful for medicine. Blessed with amazing family. Hope you have a beautiful day!
Population and statistical geneticist @MGH/HMS and Broad Institute
Statistical geneticist. Professor of Human Genetics and Biostatistics at the University of Pittsburgh. Assiduously meticulous.
assistant professor at ucsf interested in genetics, statistics, etcβ¦
jeffspence.github.io
Professor of Molecular Epidemiology in Cambridge (UK)
Population and evolutionary genetics @UCDavis. Posts, grammar, & spelling are my views only. He/him. #OA popgen book https://github.com/cooplab/popgen-notes/releases
Studying genomics, machine learning, and fruit. My code is like our genomes -- most of it is junk.
Assistant Professor UMass Chan, Board of Directors NumFOCUS
Previously IMP Vienna, Stanford Genetics, UW CSE.
Assist. Director of Bioinformatics | MGB Personalized Medicine
Investigator, Cardiovascular Research Center | Massachusetts General Hospital Member of the Faculty | Harvard Medical School
Interested in Cardiovascular Genetics and Personalized Medicine π§¬π¨βπ»
Stanford PhD candidate in the Engreitz Lab. Passionate about engineering gene regulation and high-throughput tech dev.
Illumina AI Lab; Previously: Rhodes Scholar, PhD at Oxford; Princeton '19 | Interested in human genetics + computational biology
Applied statistician. I tweet data-driven observations, data science educational materials, academic research updates, and the occasional joke.
Dedicated to helping neuroscientists stay current and build connections. Subscribe to receive the latest news and perspectives on neuroscience: www.thetransmitter.org/newsletters/
Assistant Professor of Pathology @yalecancer.bsky.social β’Β @cancerresearchuk.org Clinician Scientist & Pathologist @cam.ac.uk β’Β www.aitkenlab.org β’Β #GenomicPathology β’ postsβ employer β’
π² https://www.rideclosertofree.org/participants/SarahAitken
Population and statistical genomicist working to make genomics fully representative. Views are my own. (she/her)