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

The Boston lymphatic center’s early experience with lymph node transplantation to the upper extremity

Aim: Although vascularized lymph node transplantation (VLNT) has gained recognition as an effective treatment option for lymphedema, no consensus on the timing of transplant with other lymphatic procedures has been established. The aim of this study is to describe our institutional experience with VLNT, including our staged approach and report postoperative outcomes.Methods: A retrospective review of patients who underwent VLNT for upper extremity lymphedema from May 2017 to April 2022 was conducted. Patients were divided into fat- or fluid-dominant phenotypes based on preoperative workup. Patients with a minimum of 12-month follow-up were included. Records were reviewed for demographic, intraoperative, and surveillance data.Results: Twenty-three patients underwent VLNT of the upper extremity during the study period, of which eighteen met the study criteria. Nine patients had fluid-dominant disease and nine patients had fat-dominant disease and had undergone prior debulking at our institution. Fluid-dominant patients demonstrated slight reductions in limb volume and hours in compression, and improvement in quality-of-life scores at twelve months. Fat-dominant patients who underwent prior debulking had a slight increase in limb volume without a change in hours of compression, and demonstrated improvements in quality-of-life scores in nearly all subdomains. Overall, 17% of patients discontinued compression therapy entirely. Improvement in extremity edema was present in 83% of postoperative MRIs.Conclusion: VLNT had varying effects on limb measurements while reliably improving quality-of-life and allowing for the potential of discontinuing compression. Utilizing a staged approach wherein debulking is performed upfront may be particularly beneficial for patients with fat-dominant disease