Antenatal peer support workers and initiation of breast feeding: cluster randomised controlled trial

Objective To assess the effectiveness of an antenatal service using community based breastfeeding peer support workers on initiation of breast feeding

Analysis of protein-coding genetic variation in 60,706 humans

Large-scale reference data sets of human genetic variation are critical for the medical and functional interpretation of DNA sequence changes. We describe the aggregation and analysis of high-quality exome (protein-coding region) sequence data for 60,706 individuals of diverse ethnicities generated as part of the Exome Aggregation Consortium (ExAC). This catalogue of human genetic diversity contains an average of one variant every eight bases of the exome, and provides direct evidence for the presence of widespread mutational recurrence. We have used this catalogue to calculate objective metrics of pathogenicity for sequence variants, and to identify genes subject to strong selection against various classes of mutation; identifying 3,230 genes with near-complete depletion of truncating variants with 72% having no currently established human disease phenotype. Finally, we demonstrate that these data can be used for the efficient filtering of candidate disease-causing variants, and for the discovery of human “knockout” variants in protein-coding genes

Message Journal, Issue 5: COVID-19 SPECIAL ISSUE Capturing visual insights, thoughts and reflections on 2020/21 and beyond...

If there is a theme running through the Message Covid-19 special issue, it is one of caring. Of our own and others’ resilience and wellbeing, of friendship and community, of students, practitioners and their futures, of social justice, equality and of doing the right thing. The veins of designing with care run through the edition, wide and deep. It captures, not designers as heroes, but those with humble views, exposing the need to understand a diversity of perspectives when trying to comprehend the complexity that Covid-19 continues to generate. As graphic designers, illustrators and visual communicators, contributors have created, documented, written, visualised, reflected, shared, connected and co-created, designed for good causes and re-defined what it is to be a student, an academic and a designer during the pandemic. This poignant period in time has driven us, through isolation, towards new rules of living, and new ways of working; to see and map the world in a different light. A light that is uncertain, disjointed, and constantly being redefined. This Message issue captures responses from the graphic communication design community in their raw state, to allow contributors to communicate their experiences through both their written and visual voice. Thus, the reader can discern as much from the words as the design and visualisations. Through this issue a substantial number of contributions have focused on personal reflection, isolation, fear, anxiety and wellbeing, as well as reaching out to community, making connections and collaborating. This was not surprising in a world in which connection with others has often been remote, and where ‘normal’ social structures of support and care have been broken down. We also gain insight into those who are using graphic communication design to inspire and capture new ways of teaching and learning, developing themselves as designers, educators, and activists, responding to social justice and to do good; gaining greater insight into society, government actions and conspiracy. Introduction: Victoria Squire - Coping with Covid: Community, connection and collaboration: James Alexander & Carole Evans, Meg Davies, Matthew Frame, Chae Ho Lee, Alma Hoffmann, Holly K. Kaufman-Hill, Joshua Korenblat, Warren Lehrer, Christine Lhowe, Sara Nesteruk, Cat Normoyle & Jessica Teague, Kyuha Shim. - Coping with Covid: Isolation, wellbeing and hope: Sadia Abdisalam, Tom Ayling, Jessica Barness, Megan Culliford, Stephanie Cunningham, Sofija Gvozdeva, Hedzlynn Kamaruzzaman, Merle Karp, Erica V. P. Lewis, Kelly Salchow Macarthur, Steven McCarthy, Shelly Mayers, Elizabeth Shefrin, Angelica Sibrian, David Smart, Ane Thon Knutsen, Isobel Thomas, Darryl Westley. - Coping with Covid: Pedagogy, teaching and learning: Bernard J Canniffe, Subir Dey, Aaron Ganci, Elizabeth Herrmann, John Kilburn, Paul Nini, Emily Osborne, Gianni Sinni & Irene Sgarro, Dave Wood, Helena Gregory, Colin Raeburn & Jackie Malcolm. - Coping with Covid: Social justice, activism and doing good: Class Action Collective, Xinyi Li, Matt Soar, Junie Tang, Lisa Winstanley. - Coping with Covid: Society, control and conspiracy: Diana Bîrhală, Maria Borțoi, Patti Capaldi, Tânia A. Cardoso, Peter Gibbons, Bianca Milea, Rebecca Tegtmeyer, Danne Wo

Analysis of protein-coding genetic variation in 60,706 humans

Large-scale reference data sets of human genetic variation are critical for the medical and functional interpretation of DNA sequence changes. Here we describe the aggregation and analysis of high-quality exome (protein-coding region) DNA sequence data for 60,706 individuals of diverse ancestries generated as part of the Exome Aggregation Consortium (ExAC). This catalogue of human genetic diversity contains an average of one variant every eight bases of the exome, and provides direct evidence for the presence of widespread mutational recurrence. We have used this catalogue to calculate objective metrics of pathogenicity for sequence variants, and to identify genes subject to strong selection against various classes of mutation; identifying 3,230 genes with near-complete depletion of predicted protein-truncating variants, with 72% of these genes having no currently established human disease phenotype. Finally, we demonstrate that these data can be used for the efficient filtering of candidate disease-causing variants, and for the discovery of human 'knockout' variants in protein-coding genes.Peer reviewe

Linked electronic health records for research on a nationwide cohort of more than 54 million people in England: data resource

Abstract: Objective: To describe a novel England-wide electronic health record (EHR) resource enabling whole population research on covid-19 and cardiovascular disease while ensuring data security and privacy and maintaining public trust. Design: Data resource comprising linked person level records from national healthcare settings for the English population, accessible within NHS Digital’s new trusted research environment. Setting: EHRs from primary care, hospital episodes, death registry, covid-19 laboratory test results, and community dispensing data, with further enrichment planned from specialist intensive care, cardiovascular, and covid-19 vaccination data. Participants: 54.4 million people alive on 1 January 2020 and registered with an NHS general practitioner in England. Main measures of interest: Confirmed and suspected covid-19 diagnoses, exemplar cardiovascular conditions (incident stroke or transient ischaemic attack and incident myocardial infarction) and all cause mortality between 1 January and 31 October 2020. Results: The linked cohort includes more than 96% of the English population. By combining person level data across national healthcare settings, data on age, sex, and ethnicity are complete for around 95% of the population. Among 53.3 million people with no previous diagnosis of stroke or transient ischaemic attack, 98 721 had a first ever incident stroke or transient ischaemic attack between 1 January and 31 October 2020, of which 30% were recorded only in primary care and 4% only in death registry records. Among 53.2 million people with no previous diagnosis of myocardial infarction, 62 966 had an incident myocardial infarction during follow-up, of which 8% were recorded only in primary care and 12% only in death registry records. A total of 959 470 people had a confirmed or suspected covid-19 diagnosis (714 162 in primary care data, 126 349 in hospital admission records, 776 503 in covid-19 laboratory test data, and 50 504 in death registry records). Although 58% of these were recorded in both primary care and covid-19 laboratory test data, 15% and 18%, respectively, were recorded in only one. Conclusions: This population-wide resource shows the importance of linking person level data across health settings to maximise completeness of key characteristics and to ascertain cardiovascular events and covid-19 diagnoses. Although this resource was initially established to support research on covid-19 and cardiovascular disease to benefit clinical care and public health and to inform healthcare policy, it can broaden further to enable a wide range of research

Linked electronic health records for research on a nationwide cohort of more than 54 million people in England: data resource

Abstract: Objective: To describe a novel England-wide electronic health record (EHR) resource enabling whole population research on covid-19 and cardiovascular disease while ensuring data security and privacy and maintaining public trust. Design: Data resource comprising linked person level records from national healthcare settings for the English population, accessible within NHS Digital’s new trusted research environment. Setting: EHRs from primary care, hospital episodes, death registry, covid-19 laboratory test results, and community dispensing data, with further enrichment planned from specialist intensive care, cardiovascular, and covid-19 vaccination data. Participants: 54.4 million people alive on 1 January 2020 and registered with an NHS general practitioner in England. Main measures of interest: Confirmed and suspected covid-19 diagnoses, exemplar cardiovascular conditions (incident stroke or transient ischaemic attack and incident myocardial infarction) and all cause mortality between 1 January and 31 October 2020. Results: The linked cohort includes more than 96% of the English population. By combining person level data across national healthcare settings, data on age, sex, and ethnicity are complete for around 95% of the population. Among 53.3 million people with no previous diagnosis of stroke or transient ischaemic attack, 98 721 had a first ever incident stroke or transient ischaemic attack between 1 January and 31 October 2020, of which 30% were recorded only in primary care and 4% only in death registry records. Among 53.2 million people with no previous diagnosis of myocardial infarction, 62 966 had an incident myocardial infarction during follow-up, of which 8% were recorded only in primary care and 12% only in death registry records. A total of 959 470 people had a confirmed or suspected covid-19 diagnosis (714 162 in primary care data, 126 349 in hospital admission records, 776 503 in covid-19 laboratory test data, and 50 504 in death registry records). Although 58% of these were recorded in both primary care and covid-19 laboratory test data, 15% and 18%, respectively, were recorded in only one. Conclusions: This population-wide resource shows the importance of linking person level data across health settings to maximise completeness of key characteristics and to ascertain cardiovascular events and covid-19 diagnoses. Although this resource was initially established to support research on covid-19 and cardiovascular disease to benefit clinical care and public health and to inform healthcare policy, it can broaden further to enable a wide range of research

Analysis of protein-coding genetic variation in 60,706 humans.

Large-scale reference data sets of human genetic variation are critical for the medical and functional interpretation of DNA sequence changes. Here we describe the aggregation and analysis of high-quality exome (protein-coding region) DNA sequence data for 60,706 individuals of diverse ancestries generated as part of the Exome Aggregation Consortium (ExAC). This catalogue of human genetic diversity contains an average of one variant every eight bases of the exome, and provides direct evidence for the presence of widespread mutational recurrence. We have used this catalogue to calculate objective metrics of pathogenicity for sequence variants, and to identify genes subject to strong selection against various classes of mutation; identifying 3,230 genes with near-complete depletion of predicted protein-truncating variants, with 72% of these genes having no currently established human disease phenotype. Finally, we demonstrate that these data can be used for the efficient filtering of candidate disease-causing variants, and for the discovery of human 'knockout' variants in protein-coding genes