Sagrika Chugh

Clinical and genetic spectrum of Fanconi anemia in Australia and New Zealand Fanconi anemia (FA) is a rare genetic condition that predisposes to progressive bone marrow failure, a specific spectrum of malignancies, including he…

I feel incredibly privileged to share this study on Fanconi anaemia, based on a small but important cohort. This work describes the genetics and clinical outcomes of patients in Australia and New Zealand with a diagnosis of FA.

www.sciencedirect.com/science/arti...

11.09.2025 03:50 — 👍 7    🔁 5    💬 1    📌 0

Very happy to see that it’s really happening!!

29.04.2025 07:16 — 👍 3    🔁 0    💬 0    📌 0

Going beyond cell clustering and feature aggregation: Is there single cell level information in single-cell ATAC-seq data? Single-cell Assay for Transposase Accessible Chromatin with sequencing (scATAC-seq) has become a widely used method for investigating chromatin accessibility at single-cell resolution. However, the re...

Have you been thinking hard about statistical modelling of scATAC-seq data? (No.)

Luckily for you, @aaronkwc.bsky.social has!

Aaron will help you grok:
What's going on?
What is TF-IDF?
Is there really single-cell level chromatin information?

Check it out 👇
www.biorxiv.org/content/10.1...

🧪🧬💻

10.12.2024 06:37 — 👍 47    🔁 24    💬 2    📌 2

Since one of my hobbies is to collect interesting links.😅 I've compiled a treasure trove of resources on AI, ML, programming, genomics, and bioinformatics etc. 🧬💻
Check out this table for a curated list of fascinating reads and tools: roshchupkin.notion.site/aa815c0e8396...

21.11.2024 00:07 — 👍 7    🔁 4    💬 0    📌 0