MINDDS-connect: a federated data platform integrating biobanks for meta cohort building and analysis.

Access to large patient cohort data and biobanked resources is a catalyst for progress in genomics and biomedical research, increasing statistical power, and unlocking deeper insights-especially in areas like rare diseases and mental health. Responsible research necessitates maintenance of data privacy, regulatory compliance, and research standardization. It can appear that these guiding principles oppose each other and present barriers to responsible Open science.

Long-read whole-genome sequencing-based concurrent haplotyping and aneuploidy profiling of single cells.

Long-read whole-genome sequencing (lrWGS) enhances haplotyping by providing more phasing information per read compared to short-read sequencing. However, its use for single-cell haplotype phasing remains underexplored. This proof-of-concept study examines lrWGS data from single cells for small variant (single nucleotide variant (SNV) and indel) and structural variation (SV) calling, as well as haplotyping, using the Genome in a Bottle (GIAB) Ashkenazi trio.

Clinical evaluation of long-read sequencing-based episignature detection in developmental disorders.

Background: A subset of developmental disorders (DD) is characterized by disease-specific genome-wide methylation changes. These episignatures inform on the underlying pathogenic mechanisms and can be used to assess the pathogenicity of genomic variants as well as confirm clinical diagnoses. Currently, the detection of these episignature requires the use of indirect methylation profiling methodologies.