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

Journey to the East - An Exploration of Chinese Dizi Music through the Western Flute

Through hands on experimentation of sounds from both traditional Chinese Bamboo flutes and the standard western flute (the standard concert orchestral flute), as well as research from written transcriptions and recorded audio, my FUSE project recreated traditional Chinese sounds into western flute practice by transcribing Chinese Music notation into western music notation (the standard music notation of Europe and the Americas). The poster will illustrate this process, and show examples of the outcome

The Themes of Rimsky-Korsakov\u27s Russian Easter Festival Overture

The Russian Easter Festival Overture by Nikolai Rimsky-Korsakov is a highly famous piece for symphony orchestra. The piece is subtitled “Overture on Liturgical Themes”. The themes are taken from the Obikhod, a collection of chants from the Eastern Orthodox Church. After analysis, the themes can be located and identified. Rimsky-Korsakov used specific themes from the Obikhod in a precise pattern in order to explicitly describe the story of Easter. The construction of the piece revolves around these themes. The poster will show these themes and the ways in which the themes are used in the Russian Easter Festival Overture

Evaluating Digital Health Capability at Scale Using the Digital Health Indicator

Background Health service providers must understand their digital health capability if they are to drive digital transformation in a strategic and informed manner. Little is known about the assessment and benchmarking of digital maturity or capability at scale across an entire jurisdiction. The public health care system across the state of Queensland, Australia has an ambitious 10-year digital transformation strategy.Objective The aim of this research was to evaluate the digital health capability in Queensland to inform digital health strategy and investment.Methods The Healthcare Information and Management Systems Society Digital Health Indicator (DHI) was used via a cross-sectional survey design to assess four core dimensions of digital health transformation: governance and workforce; interoperability; person-enabled health; and predictive analytics across an entire jurisdiction simultaneously. The DHI questionnaire was completed by each health care system (n = 16) within Queensland in February to July 2021. DHI is scored 0 to 400 and dimension score is 0 to 100.Results The results reveal a variation in DHI scores reflecting the diverse stages of health care digitization across the state. The average DHI score across sites was 143 (range 78–193; SD35.3) which is similar to other systems in the Oceania region and global public systems but below the global private average. Governance and workforce was on average the highest scoring dimension (x̅= 54), followed by interoperability (x̅ = 46), person-enabled health (x̅ = 36), and predictive analytics (x̅ = 30).Conclusion The findings were incorporated into the new digital health strategy for the jurisdiction. As one of the largest single simultaneous assessments of digital health capability globally, the findings and lessons learnt offer insights for policy makers and organizational managers

Michael Gibbs & Bill Frisell with the UW Symphony and Jazz Studies Faculty January 14, 2016

Concert ProgramMichael Gibbs & Bill Frisell with the UW Symphony and Jazz Studies Faculty January 14, 201

UW Wind Ensemble UW Symphonic Band UW Campus Band December 10, 2015

Concert ProgramUW Wind Ensemble UW Symphonic Band UW Campus Band December 10, 201

Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices

Abstract Autosomal genetic analyses of blood lipids have yielded key insights for coronary heart disease (CHD). However, X chromosome genetic variation is understudied for blood lipids in large sample sizes. We now analyze genetic and blood lipid data in a high-coverage whole X chromosome sequencing study of 65,322 multi-ancestry participants and perform replication among 456,893 European participants. Common alleles on chromosome Xq23 are strongly associated with reduced total cholesterol, LDL cholesterol, and triglycerides (min P = 8.5 × 10−72), with similar effects for males and females. Chromosome Xq23 lipid-lowering alleles are associated with reduced odds for CHD among 42,545 cases and 591,247 controls (P = 1.7 × 10−4), and reduced odds for diabetes mellitus type 2 among 54,095 cases and 573,885 controls (P = 1.4 × 10−5). Although we observe an association with increased BMI, waist-to-hip ratio adjusted for BMI is reduced, bioimpedance analyses indicate increased gluteofemoral fat, and abdominal MRI analyses indicate reduced visceral adiposity. Co-localization analyses strongly correlate increased CHRDL1 gene expression, particularly in adipose tissue, with reduced concentrations of blood lipids