Pathogenic ERCC2 variants cause xeroderma pigmentosum (XP), trichothiodystrophy (TTD) or both, yet variant effect scores are usually interpreted only as measures of pathogenicity rather than of which ...

This Review discusses how rare-disease-causing variants in the noncoding genome impact gene regulation, why these examples are so few and how new approaches could accelerate discovery of noncoding var...

Recessive diseases arise from the combined effects of two alleles, yet most variant interpretation methods consider variants individually. Çubuk et al. map more than 8,000 variants in the recessive en...

Abstract. Noncoding single-nucleotide variants (SNVs) that alter transcription factor (TF) binding can affect gene expression and contribute to disease. Se

Protein structures can help determine the disease-causing mechanisms of mutations. Here, the authors use a protein structure-based approach to show that nearly half of dominant genetic conditions result in non-simple loss-of-function effects.

Author summary Some parts of proteins, known as intrinsically disordered regions, do not fold into fixed shapes. Instead, they stay flexible and play key roles in controlling how cells work, often by ...

A genome-wide variant effect calibration method was recently developed under the guidelines of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG/A...

Establishing an innovative research line as Lecturer in Computational Genomics related to reproductive disorders and genomic medicine. This Lecturer post is full-time (35 hours per week); however, we ...

At the Clinical Atlas of Variant Effects meeting (CLAVE meeting, July 2024, Pittsburgh USA), we developed recommendations for a draft atlas that can be realized by 2030, with a focus on empowering gen...

Researchers from the Institute of Genetics and Cancer have been working with the Atlas of Variant Effects Alliance to provide practical guidelines for releasing new computational tools known as varian...

YouTube video by Variant Effects

Computational methods for assessing the likely impacts of mutations, known as variant effect predictors (VEPs), are widely used in the assessment and interpretation of human genetic variation, as well...

Background Understanding the relationship between protein sequence and function is crucial for accurate classification of missense variants. Variant effect predictors (VEPs) play a vital role in decip...

Computational methods for assessing the likely impacts of mutations, known as variant effect predictors (VEPs), are widely used in the assessment and interpretation of human genetic variation, as well...

Our research is focused on understanding how genetic changes in the non-coding genome can impact gene regulatory mechanisms, alter developmental processes and ultimately affect human craniofacial shap...

Despite massive sequencing efforts, understanding the difference between human pathogenic and benign variants remains a challenge. Computational varia…

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