Singapore Population Genomics Program Moves Into Phenotyping Phase With BC Platforms Partnership
NTU Singapore, through its SG100K program, has launched the HELIOS cohort to bring in environmental, lifestyle, and genetic factors in its effort to better understand Asian populations.
Remote Visualization of Local Genome Alignments Aids Pathogenic Variant Evaluation for Rare Disease
Researchers at Barcelona's CNAG-CRG are assessing variants in rare disease patients by linking them to alignments of "slices" of genomes and exomes in the European Genome-Phenome Archive.
UK, Thailand Governments Sign Genomics Partnership
The countries will share genome sequencing expertise and collaborate on research, education, training opportunities, knowledge exchanges, and data management.
Standards, Regulation, Funding Move Bioinformatics in 2022, But Hurdles to Precision Medicine Remain
The year saw significant progress in clinical and research areas, but vendors and healthcare providers continue to struggle with clinical decision support and interoperability.
Invitae revealed that it uses patient data for quality control and VUS resolution, with a Data Use Committee vetting all external academic and industry requests.