Large scale genome sequencing allowed the identification of a massive number of genetic
variations, whose impact on human health is still unknown. In this review we analyze, by an …

Most known pathogenic mutations occur in protein-coding regions of DNA and change the
way proteins are made. Taking protein structure into account has therefore provided great …

Develo** vehicles that efficiently deliver genes throughout the human central nervous
system (CNS) will broaden the range of treatable genetic diseases. We engineered an …

The granular dorsolateral prefrontal cortex (dlPFC) is an evolutionary specialization of
primates that is centrally involved in cognition. We assessed more than 600,000 single …

Highlights•Mutation informatics study on RBD of SARS-CoV-2 variants.•Discussion of small
molecules targeting the RBD/ACE2 interface.•Ideation to design novel inhibitors against wild …

Activating point mutations in the MET tyrosine kinase domain (TKD) are oncogenic in a
subset of papillary renal cell carcinomas. Here, using comprehensive genomic profiling …

We used a machine learning approach to analyze the within-gene distribution of missense
variants observed in hereditary conditions and cancer. When applied to 840 genes from the …

Accurate prediction of damaging missense variants is critically important for interpreting a
genome sequence. Although many methods have been developed, their performance has …

Genetic variants in the SLC6A1 gene can cause a broad phenotypic disease spectrum by
altering the protein function. Thus, systematically curated clinically relevant genotype …

Recent advances in AI-based methods have revolutionized the field of structural biology.
Concomitantly, high-throughput sequencing and functional genomics have generated …