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

Cardiology electronic consultations: Efficient and safe, but consultant satisfaction is equivocal.

BackgroundCardiovascular electronic consultation is a new service line in consultative medicine and enables care without in-person office visits. We aimed to evaluate accessibility and time saved as measures of efficiency, determine the safety of cardiology electronic consultations, and assess satisfaction by responding cardiologists.MethodsUsing a mixed-methods approach and a modified time-driven, activity-based, costing framework, we retrospectively analysed cardiology electronic consultations. A random subset of 500 electronic consultations referred between 2013-2017 were reviewed. Accessibility was determined based upon increased number of patients served without the need for an in-person clinic visit. To assess safety, medical records were reviewed for emergency room visits or hospital admission at six months from the initial electronic consultation date. Responding cardiologist satisfaction was assessed by voluntary completion of an online survey.ResultsThe majority of electronic consultations were related to medication advice, clearance for surgery, evaluation of images, or guidance after abnormal testing. Recommendations included echo (10.8%), stress testing (5.0%), other imaging (4.0%) and other subspecialist referrals (3.8%). Electronic consultations were completed within 0.7±0.5 days of the request, with a time to completion of 5-30 min. Over a six-month follow-up, 13.9% of patients had an in-person visit and 2.2% of patients were hospitalised, but none were directly related to the electronic consultation question. Satisfaction by responding cardiologists was modest.ConclusionIn conclusion, within a single-payer system, cardiology electronic consultations represent a convenient and safe alternative for providing consultative cardiovascular care, but further optimization is necessary to minimise electronic consultation fatigue experienced by cardiologists