Kanwal Batool | کنول بتول
@kanwalbatool.bsky.social
Analysing low-frequency variants | #WomenInScience | Research student by day, artist by night, also I love documenting butterflies
https://www.instagram.com/kb_chasingbutterflies/#
https://www.instagram.com/kb_chasingbutterflies/#
Reposted by Kanwal Batool | کنول بتول
How do GWAS and rare variant burden tests rank gene signals?
In new work @nature.com with @hakha.bsky.social, @jkpritch.bsky.social, and our wonderful coauthors we find that the key factors are what we call Specificity, Length, and Luck!
🧬🧪🧵
www.nature.com/articles/s41...
In new work @nature.com with @hakha.bsky.social, @jkpritch.bsky.social, and our wonderful coauthors we find that the key factors are what we call Specificity, Length, and Luck!
🧬🧪🧵
www.nature.com/articles/s41...
Specificity, length and luck drive gene rankings in association studies - Nature
Genetic association tests prioritize candidate genes based on different criteria.
www.nature.com
November 7, 2025 at 12:05 AM
How do GWAS and rare variant burden tests rank gene signals?
In new work @nature.com with @hakha.bsky.social, @jkpritch.bsky.social, and our wonderful coauthors we find that the key factors are what we call Specificity, Length, and Luck!
🧬🧪🧵
www.nature.com/articles/s41...
In new work @nature.com with @hakha.bsky.social, @jkpritch.bsky.social, and our wonderful coauthors we find that the key factors are what we call Specificity, Length, and Luck!
🧬🧪🧵
www.nature.com/articles/s41...
The illustration I made for nat comms was featured in the Estonian newspaper, glad it found a home somewhere after all! 😄
news.err.ee/1609832178/g...
news.err.ee/1609832178/g...
Group of unique gene variants governing Estonians' appetite
Several distinctive gene variants found in Estonians influence body weight and appetite, many of which are unique to this region and act primarily in the brain rather than the gut.
news.err.ee
October 17, 2025 at 5:05 PM
The illustration I made for nat comms was featured in the Estonian newspaper, glad it found a home somewhere after all! 😄
news.err.ee/1609832178/g...
news.err.ee/1609832178/g...
Reposted by Kanwal Batool | کنول بتول
1/7 New BMI GWAS out! Using Estonian Biobank (n=204,747) and replication in FinnGen, we show that even in Europe you can still find region-specific biology if you zoom into population-tailored sumstats. Big thanks to co-author @kanwalbatool.bsky.social :)
October 16, 2025 at 6:54 PM
1/7 New BMI GWAS out! Using Estonian Biobank (n=204,747) and replication in FinnGen, we show that even in Europe you can still find region-specific biology if you zoom into population-tailored sumstats. Big thanks to co-author @kanwalbatool.bsky.social :)
Reposted by Kanwal Batool | کنول بتول
We found a globally rare variant rather common in Estonia that rises BMI by 0.8 units per allele 🤯 @estbiobank.bsky.social
Uuringus, mis põhineb Geenivaramu andmetel, avastati mitmeid olulisi geneetilisi variatsioone, mis mõjutavad kehamassiindeksit (KMI). doi.org/10.1038/s414...
Characterization of prevalent genetic variants in the Estonian Biobank body-mass index GWAS - Nature Communications
Here the authors perform a genome wide association study of 204,747 Estonian Biobank participants revealing 214 BMI loci. Reported signals include ADGRL3, PTPRT, and a protein-truncating POMC variant ...
doi.org
October 14, 2025 at 4:59 PM
We found a globally rare variant rather common in Estonia that rises BMI by 0.8 units per allele 🤯 @estbiobank.bsky.social
Reposted by Kanwal Batool | کنول بتول
Excited to share our recently published overview of the @estbiobank.bsky.social 🧬
We highlight the unique features of the biobank and the conducted scientific research it has enabled, including the many recall studies that have been carried out over the years!
www.nature.com/articles/s41...
We highlight the unique features of the biobank and the conducted scientific research it has enabled, including the many recall studies that have been carried out over the years!
www.nature.com/articles/s41...
The Estonian Biobank’s journey from biobanking to personalized medicine - Nature Communications
Large-scale biobanks have become a font of data that have led to discoveries across many fields of research. Here, the authors provide an overview of the Estonian Biobank, highlighting its value for r...
www.nature.com
April 7, 2025 at 9:13 AM
Excited to share our recently published overview of the @estbiobank.bsky.social 🧬
We highlight the unique features of the biobank and the conducted scientific research it has enabled, including the many recall studies that have been carried out over the years!
www.nature.com/articles/s41...
We highlight the unique features of the biobank and the conducted scientific research it has enabled, including the many recall studies that have been carried out over the years!
www.nature.com/articles/s41...
A #starterpack for anyone interested in discussions related to functional genomics. 🧬👩💻
go.bsky.app/AFwhegs
go.bsky.app/AFwhegs
January 29, 2025 at 3:56 PM
A #starterpack for anyone interested in discussions related to functional genomics. 🧬👩💻
go.bsky.app/AFwhegs
go.bsky.app/AFwhegs
+1 from Twitter/X.
November 21, 2024 at 9:20 AM
+1 from Twitter/X.