Abschlussbericht Demografie-Fokus: Ergebnisse der Workshops 2016 und 2017 zum demografischen Wandel in kleinen und mittleren Städten und Gemeinden im Freistaat Sachsen

Der vorliegende Bericht richtet sich an die beteiligten Akteure der Demografie-Fokus-Reihe und an alle, die an den Ergebnissen der Fokus-Reihe interessiert sind. Die Veranstaltungsreihe wurde im Rahmen des Landesförderprogramms Demografie und unter Begleitung der Sächsischen Staatskanzlei unterstützt. Konzeption und Durchführung lagen in der Hand der Arbeitsgemeinschaft Panse + Wend. Redaktionsschluss: 30.01.201

Allele-Level KIR Genotyping of More Than a Million Samples: Workflow, Algorithm, and Observations

The killer-cell immunoglobulin-like receptor (KIR) genes regulate natural killer cell activity, influencing predisposition to immune mediated disease, and affecting hematopoietic stem cell transplantation (HSCT) outcome. Owing to the complexity of the KIR locus, with extensive gene copy number variation (CNV) and allelic diversity, high-resolution characterization of KIR has so far been applied only to relatively small cohorts. Here, we present a comprehensive high-throughput KIR genotyping approach based on next generation sequencing. Through PCR amplification of specific exons, our approach delivers both copy numbers of the individual genes and allelic information for every KIR gene. Ten-fold replicate analysis of a set of 190 samples revealed a precision of 99.9%. Genotyping of an independent set of 360 samples resulted in an accuracy of more than 99% taking into account consistent copy number prediction. We applied the workflow to genotype 1.8 million stem cell donor registry samples. We report on the observed KIR allele diversity and relative abundance of alleles based on a subset of more than 300,000 samples. Furthermore, we identified more than 2,000 previously unreported KIR variants repeatedly in independent samples, underscoring the large diversity of the KIR region that awaits discovery. This cost-efficient high-resolution KIR genotyping approach is now applied to samples of volunteers registering as potential donors for HSCT. This will facilitate the utilization of KIR as additional selection criterion to improve unrelated donor stem cell transplantation outcome. In addition, the approach may serve studies requiring high-resolution KIR genotyping, like population genetics and disease association studies

Framework and baseline examination of the German National Cohort (NAKO)

The German National Cohort (NAKO) is a multidisciplinary, population-based prospective cohort study that aims to investigate the causes of widespread diseases, identify risk factors and improve early detection and prevention of disease. Specifically, NAKO is designed to identify novel and better characterize established risk and protection factors for the development of cardiovascular diseases, cancer, diabetes, neurodegenerative and psychiatric diseases, musculoskeletal diseases, respiratory and infectious diseases in a random sample of the general population. Between 2014 and 2019, a total of 205,415 men and women aged 19–74 years were recruited and examined in 18 study centres in Germany. The baseline assessment included a face-to-face interview, self-administered questionnaires and a wide range of biomedical examinations. Biomaterials were collected from all participants including serum, EDTA plasma, buffy coats, RNA and erythrocytes, urine, saliva, nasal swabs and stool. In 56,971 participants, an intensified examination programme was implemented. Whole-body 3T magnetic resonance imaging was performed in 30,861 participants on dedicated scanners. NAKO collects follow-up information on incident diseases through a combination of active follow-up using self-report via written questionnaires at 2–3 year intervals and passive follow-up via record linkages. All study participants are invited for re-examinations at the study centres in 4–5 year intervals. Thereby, longitudinal information on changes in risk factor profiles and in vascular, cardiac, metabolic, neurocognitive, pulmonary and sensory function is collected. NAKO is a major resource for population-based epidemiology to identify new and tailored strategies for early detection, prediction, prevention and treatment of major diseases for the next 30 years. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s10654-022-00890-5

Abschlussbericht Demografie-Fokus: Ergebnisse der Workshops 2016 und 2017 zum demografischen Wandel in kleinen und mittleren Städten und Gemeinden im Freistaat Sachsen

Der vorliegende Bericht richtet sich an die beteiligten Akteure der Demografie-Fokus-Reihe und an alle, die an den Ergebnissen der Fokus-Reihe interessiert sind. Die Veranstaltungsreihe wurde im Rahmen des Landesförderprogramms Demografie und unter Begleitung der Sächsischen Staatskanzlei unterstützt. Konzeption und Durchführung lagen in der Hand der Arbeitsgemeinschaft Panse + Wend. Redaktionsschluss: 30.01.201

Abschlussbericht Demografie-Fokus: Ergebnisse der Workshops 2016 und 2017 zum demografischen Wandel in kleinen und mittleren Städten und Gemeinden im Freistaat Sachsen

Der vorliegende Bericht richtet sich an die beteiligten Akteure der Demografie-Fokus-Reihe und an alle, die an den Ergebnissen der Fokus-Reihe interessiert sind. Die Veranstaltungsreihe wurde im Rahmen des Landesförderprogramms Demografie und unter Begleitung der Sächsischen Staatskanzlei unterstützt. Konzeption und Durchführung lagen in der Hand der Arbeitsgemeinschaft Panse + Wend. Redaktionsschluss: 30.01.201

Additional file 4: of ABO allele-level frequency estimation based on population-scale genotyping by next generation sequencing

Mappings from EAG group codes as used in the JAGS model calculations to the allele groups (AlleleGroupIdentifiers.csv). (CSV 6 kb

Additional file 2: of ABO allele-level frequency estimation based on population-scale genotyping by next generation sequencing

JAGS model specification file (ABO_model.bug). (BUG 38 kb

Framework and baseline examination of the German National Cohort (NAKO)

The German National Cohort (NAKO) is a multidisciplinary, population-based prospective cohort study that aims to investigate the causes of widespread diseases, identify risk factors and improve early detection and prevention of disease. Specifically, NAKO is designed to identify novel and better characterize established risk and protection factors for the development of cardiovascular diseases, cancer, diabetes, neurodegenerative and psychiatric diseases, musculoskeletal diseases, respiratory and infectious diseases in a random sample of the general population. Between 2014 and 2019, a total of 205,415 men and women aged 19–74 years were recruited and examined in 18 study centres in Germany. The baseline assessment included a face-to-face interview, self-administered questionnaires and a wide range of biomedical examinations. Biomaterials were collected from all participants including serum, EDTA plasma, buffy coats, RNA and erythrocytes, urine, saliva, nasal swabs and stool. In 56,971 participants, an intensified examination programme was implemented. Whole-body 3T magnetic resonance imaging was performed in 30,861 participants on dedicated scanners. NAKO collects follow-up information on incident diseases through a combination of active follow-up using self-report via written questionnaires at 2–3 year intervals and passive follow-up via record linkages. All study participants are invited for re-examinations at the study centres in 4–5 year intervals. Thereby, longitudinal information on changes in risk factor profiles and in vascular, cardiac, metabolic, neurocognitive, pulmonary and sensory function is collected. NAKO is a major resource for population-based epidemiology to identify new and tailored strategies for early detection, prediction, prevention and treatment of major diseases for the next 30 years