Publications by authors named "G Mark Lathrop"

Article Synopsis
  • Lung carcinoids (L-CDs) are rare neuroendocrine tumors more common in women and categorized into typical (TCs) and atypical carcinoids (ACs), with ACs having worse prognosis.
  • A study of 15 L-CDs revealed two distinct subtypes, L-CD-PanC, likened to pancreatic tumors, and L-CD-NeU, akin to neuroendocrine tumors, differentiated by their genetic and epigenetic profiles.
  • L-CD-PanC tumors showed changes related to metabolic and pancreatic genes, while L-CD-NeU tumors exhibited high mutational loads and specific environmental mutational signatures, suggesting different underlying causes and potential treatment implications.
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Large-scale imputation reference panels are currently available and have contributed to efficient genome-wide association studies through genotype imputation. However, whether large-size multi-ancestry or small-size population-specific reference panels are the optimal choices for under-represented populations continues to be debated. We imputed genotypes of East Asian (180k Japanese) subjects using the Trans-Omics for Precision Medicine reference panel and found that the standard imputation quality metric (Rsq) overestimated dosage r2 (squared correlation between imputed dosage and true genotype) particularly in marginal-quality bins.

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We report genomes of nine phages isolated from Actinobacteria NRRL B-16538. Six of these phages belong to actinobacteriophage cluster CR, which otherwise contains phages; two form the CF cluster; and one is a singleton. Genome lengths are 62,017-80,980 bp with 63.

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Previous genome-wide association studies (GWASs) of stroke - the second leading cause of death worldwide - were conducted predominantly in populations of European ancestry. Here, in cross-ancestry GWAS meta-analyses of 110,182 patients who have had a stroke (five ancestries, 33% non-European) and 1,503,898 control individuals, we identify association signals for stroke and its subtypes at 89 (61 new) independent loci: 60 in primary inverse-variance-weighted analyses and 29 in secondary meta-regression and multitrait analyses. On the basis of internal cross-ancestry validation and an independent follow-up in 89,084 additional cases of stroke (30% non-European) and 1,013,843 control individuals, 87% of the primary stroke risk loci and 60% of the secondary stroke risk loci were replicated (P < 0.

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