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 status of dark septate root fungal endophytes in Antarctic plant communities

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Field Guide to the Plants of the Falkland Islands

Situated in the South Atlantic, some 500 km from mainland South America, the Falkland Islands are a remote archipelago formed of two larger islands (East and West Falkland) and over 500 smaller islands. This book is the output from a collaboration between scientists at the Royal Botanic Gardens, Kew and Falklands Conservation, who have been working together for many years. With recent additions to the flora, there are now 181 vascular plant species recorded as native to the Islands, including one natural hybrid, as well as 14 vascular plant species that are endemic to the Falklands and therefore found nowhere else. This new comprehensive field guide covers over 300 species, including both native and non-native, from 14 broad habitat types. Illustrated throughout with colour photographs, each species profile includes nomenclature, description, flowering times, native status, distribution, habitat, abundance, legal protection, Red List status and invasive notes

Taxonomic affinities of dark septate root endophytes of Colobanthus quitensis and Deschampsia antarctica, the two native Antarctic vascular plant species

Although dark septate fungal endophytes (DSE) occur widely in association with plant roots in cold-stressed habitats, little is known of the taxonomic status of DSE in Antarctica. Here we investigate the phylogenetic affinities of DSE colonising the roots of Colobanthus quitensis and Deschampsia antarctica, the two maritime Antarctic vascular plant species. Two hundred and forty-three DSE were isolated from roots collected from 17 sites across a 1 470 km transect through maritime and sub-Antarctica. The ITS1-5.8S-ITS2 nuclear ribosomal gene cluster of representative isolates was sequenced, and the sequences were recovered in 10 sequence groups and sub-groups. Nine of the sequence groupings could be placed in the Helotiales and the remaining one showed high homology to a large number of currently unassigned anamorphic ascomycete sequences. Of the Helotiales, Leptodontidium orchidicola, Rhizoscyphus ericae and species of Tapesia and Mollisia could be confidently identified. This study demonstrates that members of the Helotiales, including several widely-recognised DSE genera, commonly colonise the roots of C. quitensis and D. antarctica in the Antarctic

Factors influencing postoperative experiences in adult cochlear implant recipients : a multistakeholder perspective

OBJECTIVE : To explore factors influencing postoperative experiences of adult cochlear implant (CI) recipients, determine the impact of each factor, and conceptualize recipients' postoperative journey. STUDY DESIGN : Participatory mixed methods; concept mapping. SETTING : Tertiary care (private and public). PATIENTS : Ninety-three participated in the brainstorming activity. Eighty-nine completed the sorting tasks (96% retention rate): CI recipients (n = 44), significant others (n = 13), CI audiologists (n = 14) and surgeons (n = 5), CI clinics' administration staff (n = 5) and managers (n = 3), and CI manufactures' clinical support staff (n = 5). INTERVENTION(S) : Rehabilitative (CIs). MAIN OUTCOME MEASURE(S) : Statements were generated and rated by participants. Similarity of grouping of the statements informed the matrices used for cluster analysis to form concepts. RESULTS : Eighty-seven unique statements described the factors influencing adapting to, use, and maintenance of CIs after implantation. These were grouped, and five concepts were identified: financial considerations, complications, device usability and durability, device programming and adaptation, and patient motivation and supports. Although statements within the concepts financial considerations and complications were negatively rated, statements within the concepts device programming and adaptation, and patient motivation and supports were mostly rated as having positive influence in patients' postoperative journey. The concept device usability and durability contained both negatively and positively rated statements. CONCLUSIONS : Postoperative experience of adult CI recipients is a multifaceted journey with several challenges to address to improve services. Although support from and connection with family and clinicians, and simplicity of using a CI device facilitated the experience, medical and surgical complications, durability, and cost of maintaining the device challenged the postoperative experience.The Ear Science Institute Australia.http://journals.lww.com/otology-neurotology2023-09-01hj2023Speech-Language Pathology and Audiolog

What influences decision-making for cochlear implantation in adults? Exploring barriers and drivers from a multistakeholder perspective

OBJECTIVES : To explore the factors influencing the uptake of cochlear implants in adults, determine the impact of each factor, and to conceptualize the journey to implantation from a multistakeholder perspective. DESIGN : Concept mapping was used to integrate input from multiple stakeholders, each with their own experience and expertise. This mixed participatory method collects qualitative and quantitative data collection and enables further quantitative analysis. There were two participant cohorts: clients (cochlear implant recipients, candidates, and family members) and professionals (cochlear implant audiologists, ear, nose, and throat surgeons, administration staff, managers. and manufacturer representatives). A total of 93 people participated in the study: client cohort (n = 60, M age = 66.60 years) and professional cohort (n = 33, M age = 45.24 years). Participants brainstormed statements in response to the question "What influences people's decision to get/not get a cochlear implant?" They subsequently grouped the statements and named each group. They rated each statement as to its impact on the decision and prioritized the need for each to be changed/improved using a five-point Likert scale. Multidimensional scaling was used to produce a visual representation of the ideas and their relationship in the form of concepts. Further analysis was conducted to determine the differences between the cohorts, subcohorts, and concepts. RESULTS : One hundred ten unique statements were generated and grouped into six concepts which either directly affected the client or their environment. These concepts were: external influences (awareness and attitude of non-implant professionals about uptake, cost, logistics, the referral pathway, public awareness); uncertainties, beliefs, and fears (fears, negative effect of word of mouth, unsuccessful previous ear surgery, cosmetics of the device, misunderstanding of how a cochlear implant functions, eligibility for an implant and outcomes after implantation); health problems (mental and physical health); hearing difficulties (social, emotional, and communication impacts of hearing loss, severity of hearing loss, benefit from and experience with hearing aids); implant professionals (implant team's attitude, knowledge and relationship with clients, quality of overall service); and goals and support (clients 'hearing desires and goals, motivation, positive impact of word of mouth, family support, having a cochlear implant mentor. The six concepts fell into two overarching domains: the client-driven domain with four concepts and the external domain with two concepts. The mean rating of concepts in terms of impact on a client's decision to get an implant ranged from 2.24 (external influences, the main barrier) to 4.45 (goals and support, the main driver). Ratings significantly differed between the client and professional cohorts. CONCLUSIONS : This study increases our understanding of the factors, which influence a client's decision choose a cochlear implant as a hearing treatment. It also provides new information on the influence of the other stakeholders on the client journey. The magnitude of the generated statements in the client-driven domain highlights the pivotal role of individualized care in clinical settings in influencing a client's decision and the need for the professionals to understand a client's needs and expectations. A client's persistent hearing difficulties, goals, and support network were identified as drivers to the uptake of cochlear implants. However, the barriers identified highlight the need for a collaborative multi- and interdisciplinary approach to raise awareness in and educate non-implant hearing professionals about the cochlear implant process, as well as providing information to empower clients to make educated decisions and consider a cochlear implant as a hearing management option.The Ear Science Institute Australiahttps://journals.lww.com/ear-hearing/pages/default.aspx2021-06-24hj2021Speech-Language Pathology and Audiolog

Potential Impacts of Climate Change on Native Plant Distributions in the Falkland Islands

<div><p>The Falkland Islands are predicted to experience up to 2.2°C rise in mean annual temperature over the coming century, greater than four times the rate over the last century. Our study investigates likely vulnerabilities of a suite of range-restricted species whose distributions are associated with archipelago-wide climatic variation. We used present day climate maps calibrated using local weather data, 2020–2080 climate predictions from regional climate models, non-climate variables derived from a digital terrain model and a comprehensive database on local plant distributions. Weighted mean ensemble models were produced to assess changes in range sizes and overlaps between the current range and protected areas network. Target species included three globally threatened Falkland endemics, <i>Nassauvia falklandica</i>, <i>Nastanthus falklandicus</i> and <i>Plantago moorei</i>; and two nationally threatened species, <i>Acaena antarctica</i> and <i>Blechnum cordatum</i>. Our research demonstrates that temperature increases predicted for the next century have the potential to significantly alter plant distributions across the Falklands. Upland species, in particular, were found to be highly vulnerable to climate change impacts. No known locations of target upland species or the southwestern species <i>Plantago moorei</i> are predicted to remain environmentally suitable in the face of predicted climate change. We identify potential refugia for these species and associated gaps in the current protected areas network. Species currently restricted to the milder western parts of the archipelago are broadly predicted to expand their ranges under warmer temperatures. Our results emphasise the importance of implementing suitable adaptation strategies to offset climate change impacts, particularly site management. There is an urgent need for long-term monitoring and artificial warming experiments; the results of this study will inform the selection of the most suitable locations for these. Results are also helping inform management recommendations for the Falkland Islands Government who seek to better conserve their biodiversity and meet commitments to multi-lateral environmental agreements.</p></div

Confusion matrix tables for TSS-weighted mean ensemble models for each target species.

<p>Confusion matrix tables for TSS-weighted mean ensemble models for each target species.</p