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

Genes, Gender, Hormones, and Doping in Sport: A Convoluted Tale

We are writing this piece in the aftermath of the 2016 Olympic Games in Rio de Janeiro, Brazil. Each of the words in the title plays a role(s) in deciding who may compete, especially who may compete as a woman. We shall be careful to disentangle the issues of genes and gender from hormonal levels of the potent androgen testosterone, and very clearly demarcate these natural occurrences from those of doping, for which the World Anti-Doping Agency has established strict guidelines. These elements became conflated in the aftermath of the Court of Arbitration of Sport’s decision, now more than 2 years ago, concerning the teenage Indian sprinter, Dutee Chand. Although many people associate hyperandrogenism with doping and gender determination, each is different and has a distinct function