Can MAVEs and population-free VEPs be combined to improve variant classification? VEPs detect a broad range of pathogenic variants, while MAVEs give more conservative & decisive calls. Combined, they equitably reclassify >90% of VUS. Read more in our study on combining evidence from MAVEs and VEPs:
09.12.2025 18:41 — 👍 4 🔁 2 💬 0 📌 0
30.11.2024 20:17 — 👍 1 🔁 0 💬 0 📌 0
Postdoc at University of Exeter 🇮🇪🇮🇳🇬🇧 Statistical/Computational analyses using any NGS-based data
Formerly at Sanger institute working on recessive developmental disorders in DDD
Cosmologist, pilot, author, connoisseur of cosmic catastrophes. TEDFellow, CIFAR Azrieli Global Scholar. Domain verified through my personal astrokatie.com website. She/her. Dr.
Personal account; not speaking for employer or anyone else.
Bayescurious evidence enthusiast at the100.ci
Topics: evolution, ovulation, mutation, intelligence, personality, sexuality, R, open science & source tools. https://rubenarslan.github.io/
Statistical geneticist. Associate Prof at Dana-Farber / Harvard Medical School.
www.gusevlab.org
Associate Professor of Bioengineering, Berkeley. Living in an RNA world. lareaulab.org
Postdoctoral Bioinformaticial in the Computational Rare Disease Genomics group (Nicky Whiffin). univ. Oxford 🧬💻
Loves Evolution, regulation, cheese and cats. She/Her
Disease genomics & molecular mechanisms; ME/cfs: http://decodeme.org.uk, SequenceME @ Edinburgh University. Views - my own. He/him.
Human disease genomics, precision medicine and machine learning. Associate Professor at @IcahnMountSinai
Interested in DNA damage, mutations, adaptation and evolution.
DKTK, DKFZ, LMU https://dktk.dkfz.de/en/research/dktk-researchers/anderson-group
Munich, Germany
Population & Human Genetics
Using genomics & bioinformatics to decipher immunity
teichlab.org
Research in AI for Protein Design @Harvard | Prev. CS PhD @UniofOxford, Maths & Physics @Polytechnique
Genomics, technology and human genetics @University of Washington. Working to create an atlas of variant effects and resolve VUS.
Same content, different website! Human evolutionary genomics, functional genomics and archaic hominins. Group leader in Human Genomics at SVI in Melbourne/Naarm, Australia. Durian evangelist. Sometimes I go to Estonia.
Solve Biology
Head of Generative Genomics, Wellcome Sanger Institute, Cambridge, UK
Systems + Synthetic Biology, CRG, Barcelona
http://barcelonacollaboratorium.com http://allox.bio https://www.sanger.ac.uk/programme/generative-and-synthetic-genomics/
Group at MRC HGU using genetics, cell biology and lots of imaging to unlock the mysteries of mammalian #cilia. #cilia. #centrioles #cytoskeleton #RareDisease www.cilialab.co.uk
Reader (Associate Professor) in Biomedical AI at University of Edinburgh |Quantitative Biomedicine #causalinference #ML #AI - views are my own
Group leader at MRC Human Genetics Unit, University of Edinburgh. Interdisciplinary research on disease #epigenetics. Part-time solo dad. Occasional music and climbing.
https://institute-genetics-cancer.ed.ac.uk/research/research-groups-a-z/sproul-group
