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

SoHo Story

Formed by the London Community Foundation (LCF), the Vision SoHo Alliance is a partnership between six non-profit housing developers, which includes Chelsea Green Home Society, Homes Unlimited, Indwell, Residenza Affordable Housing, London Affordable Housing Foundation, and Zerin Development Corporation. Vision SoHo Alliance will create 650-unit apartments, of which 30-60% will be affordable units, in seven buildings on the former South Street Victoria Hospital property. Most buildings will be located on the block bounded by Waterloo, South, Colborne, and Hill streets. Another building will be constructed at the northeast corner of South and Colborne. Indwell purchased the former Faculty of Medicine building and War Memorial Children’s Hospital to be redeveloped as housing and designated as heritage buildings under the Ontario Heritage Act. The Vision SoHo Alliance tasked Western’s MA Public History Program with researching and compiling stories of St. David’s Ward, now known as the South of Horton, or SoHo neighbourhood (bounded by the Canadian National Railway and Adelaide Street with the Thames River acting as a natural south-west barrier), the former Western Faculty of Medicine building (1921), and the War Memorial Children’s Hospital (1922). This research included orally interviewing Londoners who had or have ties to the SoHo area. This is in effort to preserve the history of one of the oldest and most culturally diverse area in London, and which changed demographically following the medical school moving to Western’s main campus in 1965, the closing of War Memorial in 1985, and of Victoria Hospital in 2013. Western’s MA Public History Program plans to use the compiled research and recordings to curate a digitally interactive outdoor exhibit installed in the green spaces of the Alliance’s property, which will highlight the significance of the neighbourhood and the area’s medical history. The goals of this report are to: • Document the history of the SoHo area, including Indigenous presence, immigration, and neighbourhood culture; • Create a thematic historical overview of the neighbourhood, the medical school, and War Memorial Children’s Hospital; • Compile associated stories, memories, and photographs provided by the public. This is the final two-year research report which revises and extend the first-year report called Echoes of SoHo

A Genome Scan for Modifiers of Age at Onset in Huntington Disease: The HD MAPS Study

Huntington disease (HD) is caused by the expansion of a CAG repeat within the coding region of a novel gene on 4p16.3. Although the variation in age at onset is partly explained by the size of the expanded repeat, the unexplained variation in age at onset is strongly heritable (h(2)=0.56), which suggests that other genes modify the age at onset of HD. To identify these modifier loci, we performed a 10-cM density genomewide scan in 629 affected sibling pairs (295 pedigrees and 695 individuals), using ages at onset adjusted for the expanded and normal CAG repeat sizes. Because all those studied were HD affected, estimates of allele sharing identical by descent at and around the HD locus were adjusted by a positionally weighted method to correct for the increased allele sharing at 4p. Suggestive evidence for linkage was found at 4p16 (LOD=1.93), 6p21–23 (LOD=2.29), and 6q24–26 (LOD=2.28), which may be useful for investigation of genes that modify age at onset of HD