Abstract Background The Critical Assessment of Genome Interpretation (CAGI) aims to
advance the state-of-the-art for computational prediction of genetic variant impact …

Estimating the effects of variants found in disease driver genes opens the door to
personalized therapeutic opportunities. Clinical associations and laboratory experiments …

Unstable proteins are prone to form non-native interactions with other proteins and thereby
may become toxic. To mitigate this, destabilized proteins are targeted by the protein quality …

It is estimated that one in 100 men have azoospermia, the complete lack of sperm in the
ejaculate. Currently,~ 20% of azoospermia cases remain idiopathic. Non-obstructive …

Identification of pregnancies at risk of preterm birth (PTB), the leading cause of newborn
deaths, remains challenging given the syndromic nature of the disease. We report a …

Background Metachromatic leukodystrophy (MLD) is a lysosomal storage disorder caused
by mutations in the arylsulfatase A gene (ARSA) and categorized into three subtypes …

Abstract Interpretation of genomic variation plays an essential role in the analysis of cancer
and monogenic disease, and increasingly also in complex trait disease, with applications …

MPS III is an autosomal recessive lysosomal storage disease caused mainly by missense
variants in the NAGLU, GNS, HGSNAT, and SGSH genes. The pathogenicity interpretation …

Computational methods for estimating missense variant impact suffer from inconsistent
performance across genes, which poses a major challenge for their reliable use in clinical …

Motivation In silico functional annotation of proteins is crucial to narrowing the sequencing-
accelerated gap in our understanding of protein activities. Numerous function annotation …