Alexander Rakitko
@alexrakitko.bsky.social
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Genetic testing, population genetics, multifactor diseases, ML in HealthCare, Ph.D.
🧬Can chemotherapy response in aggressive breast cancer be predicted from the tumor “ecosystem”? New
@nature.com
study shows that single-cell RNAseq and spatial transcriptomics can predict response to chemotherapy in triple-negative breast cancer (model reaching AUC = 0.84).
about 1 month ago
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🧬New preprint from David Reich and colleagues examines the population history of the first Caribbean inhabitants, which has been difficult to reconstruct because very few early human remains are known.
www.biorxiv.org/content/10.6...
#PopulationGenetics
#CaribbeanIslands
#aDNA
about 1 month ago
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🧬When the world is shaken by disasters on a planetary scale, it may be time to duplicate the genome💥🌍🌱 In a new paper in
@cellcellpress.bsky.social
, researchers analyzed 470 genomes of flowering plants and suggest that whole-genome duplication may act as an evolutionary emergency mode. 🧵⤵️
about 1 month ago
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🧬CroCoDeEL is a new tool for detecting cross-sample contamination in metagenomic data.🐊🦠 The idea behind CroCoDeEL is simple and elegant. Imagine different cocktails poured into a row of glasses...🧵
www.nature.com/articles/s41...
#Microbiome
#Metagenomics
#Contamination
about 1 month ago
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🧬New @Nature paper suggests that the human gut microbiome may be shaped by evolutionary events that look surprisingly similar to global epidemics.🦠🧵
www.nature.com/articles/s41...
#Microbiome
#Genomics
#Evolution
#PopulationGenetics
about 1 month ago
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🧬Cool paper on the evolution of water lilies.🌺 What I liked most was how they adapted to aquatic life. The authors found 481 genes that water lilies have lost, including:
rdcu.be/fhdEb
#WaterLily
#Evolution
#Genetics
#Adaptation
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Water lily complete genomes illuminate the innovations of water lilies and early angiosperms
Nature Plants - This study decodes gapless genomes for three water lily species, discovering genetic keys to fertilization, floral colour and scent, and offering a molecular roadmap for how early...
https://rdcu.be/fhdEb
about 1 month ago
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🧬New massive study of more than one trillion variant–trait associations suggests that drug-target success may lie in the middle ground between low and high pleiotropy. 💊 🧵
platform.opentargets.org
www.biorxiv.org/content/10.6...
#GWAS
#OpenTargets
#Pleiotropy
#DrugDesign
#ComplexDiseases
about 2 months ago
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Bitter truth or sweet AI lie? A new @Nature paper shows that making LLMs more “warm” and polite can actually make them less accurate. Warm-tuned models made +8.6% more errors on medical questions. And the effect got much worse when the user was emotionally vulnerable.
www.nature.com/articles/s41...
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Training language models to be warm can reduce accuracy and increase sycophancy - Nature
Experiments on five different language models show that training language models to produce warmer responses can undermine the accuracy of their output, especially when users express feelings of sadne...
https://www.nature.com/articles/s41586-026-10410-0
about 2 months ago
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reposted by
Alexander Rakitko
Shai Carmi
about 2 months ago
A new preprint! A short case report in forensic genetics. Skeletal remains discovered in a cave in central Israel were thought to match a person of Ashkenazi Jewish origin missing since 1948. The authorities were confident about the identification, but... 1/3
www.biorxiv.org/content/10.6...
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https://www.biorxiv.org/content/10.64898/2026.04.24.720291v1
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🧬A new @Nature study of 258 ancient genomes from Germany shows that Early Medieval southern Germany was not formed by a simple barbarian replacement of the Roman population.🏺
www.nature.com/articles/s41...
#aDNA
#RomanEmpire
#Admixture
#PCA
#PopulationGenetics
#PedigreeReconstruction
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Demography and life histories across the Roman frontier in Germany 400–700 ce - Nature
Analysis of 258 ancient genomes from southern Germany reveals a major demographic shift during the late fifth century, yet family structures persisted from Late Roman times, demonstrating cultural con...
https://www.nature.com/articles/s41586-026-10437-3
about 2 months ago
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reposted by
Alexander Rakitko
Hans Fredrik Sunde
about 1 year ago
Our paper on indirect assortative mating is now out in
@natcomms.nature.com
! In it, we provide refined definitions of terms used to explain partner similarity, develop statistical models, and find evidence of surprisingly high social homogamy for education. Link:
doi.org/10.1038/s414...
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reposted by
Alexander Rakitko
Mike Inouye
about 1 year ago
📣 Latest from the lab: Performance of deep-learning-based approaches to improve polygenic scores
www.nature.com/articles/s41...
Its thought deep learning will substantially improve PGS but the reality is MANY have tried but no/little gain has been seen so far. Here we report our negative results.
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reposted by
Alexander Rakitko
Mike Inouye
about 1 year ago
Sparse haplotype-based fine-scale local ancestry inference at scale reveals recent selection on immune responses
www.nature.com/articles/s41...
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Sparse haplotype-based fine-scale local ancestry inference at scale reveals recent selection on immune responses - Nature Communications
Here, the authors present efficient local ancestry inference algorithms to analyse the population of origin for each individual and variant in the UK Biobank, improving controls for population structu...
https://www.nature.com/articles/s41467-025-57601-3
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reposted by
Alexander Rakitko
Stephen Turner
over 1 year ago
Investigating the performance of Oxford Nanopore long-read sequencing with respect to Illumina microarrays and short-read sequencing
www.biorxiv.org/content/10.1...
🧬🖥️🧪 Nextflow
github.com/renatosantos...
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reposted by
Alexander Rakitko
Shai Carmi
over 1 year ago
Happy to share a new preprint, to which I provided a minor contribution. Using genetic data from ~100k human embryos, we found ~1k that were haploid or triploid. We describe a thorough characterization of these embryos, with many interesting findings 🧵 1/9
www.biorxiv.org/content/10.1...
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reposted by
Alexander Rakitko
Andrea Ganna
over 1 year ago
The long awaited European guidelines for the use of Polygenic score for primary prevention of cardiovascular diseases are out! It took > 10 years from the first results proposing its use as additional screening factor among patients with intermediate CVD risk
academic.oup.com/eurheartj/ad...
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Clinical utility and implementation of polygenic risk scores for predicting cardiovascular disease: A clinical consensus statement of the ESC Council on Cardiovascular Genomics, the ESC Cardiovascular...
Abstract. Genome-wide association studies have revealed hundreds of genetic variants associated with cardiovascular diseases (CVD). Polygenic risk scores (
https://academic.oup.com/eurheartj/advance-article-abstract/doi/10.1093/eurheartj/ehae649/8001983?redirectedFrom=fulltext&login=false
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reposted by
Alexander Rakitko
Andrea Ganna
over 1 year ago
Did you know you can get DNA viruses from standard blood WGS done in large biobanks? (i didn’t). One point in favor of WGS vs WES Yet another nice paper from Yuki’s group
www.nature.com/articles/s41...
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Blood DNA virome associates with autoimmune diseases and COVID-19 - Nature Genetics
Analysis of the blood DNA virome in patients with COVID-19 and autoimmune disease associates endogenous HHV-6 (eHHV-6) and high anellovirus load with increased disease risk, most notably for systemic ...
https://www.nature.com/articles/s41588-024-02022-z
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reposted by
Alexander Rakitko
Jonas Meisner
over 1 year ago
I am excited that our *hapla* framework for fast and scalable haplotype clustering in phased genotype data has been published in Nature Communications! GitHub:
github.com/Rosemeis/hapla
Paper:
www.nature.com/articles/s41...
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Leveraging haplotype information in heritability estimation and polygenic prediction - Nature Communications
Here the authors develop a framework to leverage haplotype information through clustering for heritability estimation and polygenic prediction. Their approach estimates disease risk more accurately th...
https://www.nature.com/articles/s41467-024-55477-3
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reposted by
Alexander Rakitko
Shai Carmi
over 1 year ago
Nice analysis by PRS company Genomics plc, quantifying the potential reduction in mortality due to PRS screening. Assuming people at high risk for 7 diseases get early access to prevention/detection, they estimate saving 95 lives for each 100k people.
www.medrxiv.org/content/10.1...
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reposted by
Alexander Rakitko
Marios Georgakis
over 1 year ago
New metabolomic aging clock trained on 168 metabolites in UK Biobank (N=225,212)⏲️ 👉R2 up to 0.35 👉associations with frailty index, telomere length, self-rated health 👉prediction of all-cause mortality 1/3
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reposted by
Alexander Rakitko
Marios Georgakis
over 1 year ago
It's the era of large-scale biobanks❗️ 🧬GWAS summary stats from meta-analyses of: 👉MVP (N=630K) 👉FinnGen (N=420K) 👉UK Biobank (N=500K) ...for 330 clinical outcomes Unparalleled resource for phenome-wide explorations of genetic variation🔗: mvp-ukbb.finngen.fi
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