Predicting the effects of mutations in proteins is critical to many applications, from
understanding genetic disease to designing novel proteins that can address our most …

Decoding human genetic variation using a synthetic paradigm | Nature Reviews Genetics Skip to
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Understanding the relationship between protein sequence and function is crucial for
accurate genetic variant classification. Variant effect predictors (VEPs) play a vital role in …

Pathogenic variants in RAD51C confer an elevated risk of breast and ovarian cancer, while
individuals homozygous for specific RAD51C alleles may develop Fanconi anemia. Using …

Interpretation of disease-causing genetic variants remains a challenge in human genetics.
Current costs and complexity of deep mutational scanning methods are obstacles for …

This paper presents an evaluation of predictions submitted for the" HMBS" challenge, a
component of the sixth round of the Critical Assessment of Genome Interpretation held in …

Systematically predicting the effects of mutations on protein fitness is essential for the
understanding of genetic diseases. Indeed, predictions complement experimental efforts in …

Predicting the functional impact of changes to biological sequences is a central challenge in
genetics and biology. Beyond genetics, sequence-to-function mapping has key applications …

Accurately predicting the effect of missense variants is a central problem in interpretation of
genomic variation. Commonly used computational methods does not capture the …

The tumour suppressor CHEK2 encodes the serine/threonine protein kinase CHK2 which,
upon DNA damage, is important for pausing the cell cycle, initiating DNA repair and …