Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Genetic diagnosis of rare diseases requires accurate identification and interpretation of genomic variants. Clinical and molecular scientists from 37 expert centers across Europe created the Solve-Rare Diseases Consortium (Solve-RD) resource, encompassing clinical, pedigree and genomic rare-disease data (94.5% exomes, 5.

Maternal socialization and infant helping in Uganda and the United Kingdom.

Prosocial behavior, including instrumental helping, emerges early in development, but the role parental attitudes and practices take in shaping the emergence of early helping across different cultural contexts is not well understood. We took a longitudinal approach to investigate maternal socialization of early helping across two different cultural groups. Participants were mother-infant dyads from urban/suburban York, United Kingdom (43 infants: 21 females, 22 males) and the rural Masindi District, Uganda (39 infants: 22 females, 17 males).

A Linear Mixed Effects Model for Evaluating Synthetic Gene Circuits.

A significant advancement in synthetic biology is the development of synthetic gene circuits with predictive Boolean logic. However, there is no universally accepted or applied statistical test to analyze the performance of these circuits. Many basic statistical tests fail to capture the predicted logic (OR, AND, etc.

Peptide-Aware Chemical Language Model Successfully Predicts Membrane Diffusion of Cyclic Peptides.

Language modeling applied to biological data has significantly advanced the prediction of membrane penetration for small-molecule drugs and natural peptides. However, accurately predicting membrane diffusion for peptides with pharmacologically relevant modifications remains a substantial challenge. Here, we introduce PeptideCLM, a peptide-focused chemical language model capable of encoding peptides with chemical modifications, unnatural or noncanonical amino acids, and cyclizations.