Finishing the euchromatic sequence of the human genome

The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead

Evaluating Efficiency of a Provincial Telerehabilitation Service in Improving Access to Care During the COVID-19 Pandemic

Scope: Early in the COVID-19 pandemic, community rehabilitation stakeholders from a provincial health system designed a novel telerehabilitation service. The service provided wayfinding and self-management advice to individuals with musculoskeletal concerns, neurological conditions, or post-COVID-19 recovery needs. This study evaluated the efficiency of the service in improving access to care. Methodology: We used multiple methods including secondary data analyses of call metrics, narrative analyses of clinical notes using artificial intelligence (AI) and machine learning (ML), and qualitative interviews.                                                                        Conclusions: Interviews revealed that the telerehabilitation service had the potential to positively impact access to rehabilitation during the COVID-19 pandemic, for individuals living rurally, and for individuals on wait lists. Call metric analyses revealed that efficiency may be enhanced if call handling time was reduced. AI/ML analyses found that pain was the most frequently-mentioned keyword in clinical notes, suggesting an area for additional telerehabilitation resources to ensure efficiency