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Advanced filters: Author: Nadav Brandes Clear advanced filters

Investigating the sources of variable impact of pathogenic variants in monogenic metabolic conditions

Here the authors investigate the underlying genetic mechanisms for pathogenic variant carrier phenotype heterogeneity using exomes and clinical phenotypes from the UK and Mt. Sinai BioMe Biobanks and observed translational potential for all three mechanisms.

Angela Wei
Richard Border
Valerie A. Arboleda
ResearchOpen Access05 Jun 2025
Nature Communications

Volume: 16, P: 1-13
Genome-wide prediction of disease variant effects with a deep protein language model

A modified framework leveraging a protein language model (ESM1b) is used to predict all possible 450 million missense variant effects in the human genome and shows potential for generalizing to more complex genetic variations such as indels and stop-gains.

Nadav Brandes
Grant Goldman
Vasilis Ntranos
ResearchOpen Access10 Aug 2023
Nature Genetics

Volume: 55, P: 1512-1522
Genetic association studies of alterations in protein function expose recessive effects on cancer predisposition

Nadav Brandes
Nathan Linial
Michal Linial
ResearchOpen Access21 Jul 2021
Scientific Reports

Volume: 11, P: 1-16