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Assembly of a pan-genome from deep sequencing of 910 humans of African descent
TLDR
A deeply sequenced dataset of 910 individuals, all of African descent, is used to construct a set of DNA sequences that is present in these individuals but missing from the reference human genome, demonstrating that the African pan-genome contains ~10% more DNA than the current human reference genome. Expand
COVID-19–related Genes in Sputum Cells in Asthma. Relationship to Demographic Features and Corticosteroids
TLDR
Higher expression of ACE2 and TMPRSS2 in males, African Americans, and patients with diabetes mellitus provides rationale for monitoring these asthma subgroups for poor COVID-19 outcomes. Expand
Effect of rare variants in ADRB2 on risk of severe exacerbations and symptom control during longacting β agonist treatment in a multiethnic asthma population: a genetic study.
TLDR
The rare ADRB2 variants Ile164 and -376ins are associated with adverse events during LABA therapy and should be evaluated in large clinical trials including the current FDA-mandated safety study. Expand
Pharmacogenetics: implications of race and ethnicity on defining genetic profiles for personalized medicine.
TLDR
Large consortium-based sequencing studies are using next-generation whole-genome sequencing to provide a diverse genome map of different admixed populations, which can be used for future pharmacogenetic studies. Expand
Genome-wide association study of susceptibility to idiopathic pulmonary fibrosis
TLDR
Novel association signals support the importance of mTOR signalling in lung fibrosis and suggest a possible role of mitotic spindle-assembly genes in IPF susceptibility. Expand
Biomarker surrogates do not accurately predict sputum eosinophil and neutrophil percentages in asthmatic subjects.
TLDR
Feno levels, IgE levels, and FEV1 percent predicted, and age are poor surrogates, both separately and combined, for accurately predicting sputum eosinophil and neutrophil percentages. Expand
A continuum of admixture in the Western Hemisphere revealed by the African Diaspora genome
TLDR
Genetic variation from deeply sequenced genomes of 642 individuals from North and South American, Caribbean and West African populations is presented, substantially increasing the lexicon of human genomic variation and suggesting much variation remains to be discovered in African-admixed populations in the Americas. Expand
Overlap of Genetic Risk Between Interstitial Lung Abnormalities and Idiopathic Pulmonary Fibrosis.
TLDR
In a genome-wide association study of ILA in six studies, strong evidence for an effect of previously described IPF loci is found and distinct genetically-driven biologic pathways between ILA and IPF are suggested. Expand
Association of sputum and blood eosinophil concentrations with clinical measures of COPD severity: an analysis of the SPIROMICS cohort.
TLDR
This large, well characterised cohort of former smoking patients with a broad range of COPD severity, recruited from six clinical sites and additional subsites in the USA between Nov 12, 2010, and April 21, 2015, aimed to assess whether high eosinophil concentrations in either sputum or blood are associated with a severe COPD phenotype, including greater exacerbation frequency. Expand
Management of severe asthma: a European Respiratory Society/American Thoracic Society guideline
TLDR
Clinical recommendations for the management of severe asthma are provided and the use of novel therapies for severe asthma, specifically biologicals for type 2 high asthma, and antimuscarinic agents and macrolides, as well as on biomarkers for predicting treatment response are made. Expand
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