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Mashup Score: 0Deep learning enables genetic analysis of the human thoracic aorta - Nature Genetics - 2 year(s) ago
Genome-wide association analyses identify variants associated with thoracic aortic diameter. A polygenic score for ascending aortic diameter was associated with a diagnosis of thoracic aortic aneurysm in independent samples.
Source: Nature GeneticsCategories: Healthcare Professionals, Latest HeadlinesTweet
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Mashup Score: 8Large-scale integration of the plasma proteome with genetics and disease - Nature Genetics - 2 year(s) ago
A genome-wide association study of plasma protein levels measured with 4,907 aptamers in 35,559 Icelanders highlights links with over 370 disease endpoints and other traits.
Source: Nature GeneticsCategories: Genetics, Latest HeadlinesTweet
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Mashup Score: 10Paralog knockout profiling identifies DUSP4 and DUSP6 as a digenic dependence in MAPK pathway-driven cancers - Nature Genetics - 2 year(s) ago
A CRISPR paralog targeting library profiling 815 paralog families across 11 cell lines identifies DUSP4 and DUSP6 as paralog pairs whose combined inactivation confers sensitivity to cells resistant to MAPK inhibitors or cells harboring NRAS or BRAF mutations.
Source: Nature GeneticsCategories: Genetics, Latest HeadlinesTweet
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Mashup Score: 19Mapping the temporal and spatial dynamics of the human endometrium in vivo and in vitro - Nature Genetics - 2 year(s) ago
Single-cell and spatial transcriptomic profiling of the human endometrium highlights pathways governing the proliferative and secretory phases of the menstrual cycle. Analyses of endometrial organoids show that WNT and NOTCH signaling modulate differentiation into the secretory and ciliated epithelial lineages, respectively.
Source: Nature GeneticsCategories: Genetics, Latest HeadlinesTweet
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Mashup Score: 6Using advanced spatial and single-cell transcriptomics to characterize the human endometrium - Nature Genetics - 2 year(s) ago
The human endometrium exhibits complex signaling cascades mediated by spatial–temporal cellular interactions. Understanding the normal endometrial microenvironment is the first step towards understanding diseases of endometrial dysfunction.
Source: Nature GeneticsCategories: Genetics, Latest HeadlinesTweet
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Mashup Score: 17Deep learning enables genetic analysis of the human thoracic aorta - Nature Genetics - 2 year(s) ago
Genome-wide association analyses identify variants associated with thoracic aortic diameter. A polygenic score for ascending aortic diameter was associated with a diagnosis of thoracic aortic aneurysm in independent samples.
Source: Nature GeneticsCategories: Genetics, Latest HeadlinesTweet
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Mashup Score: 3The context-specific role of germline pathogenicity in tumorigenesis - Nature Genetics - 2 year(s) ago
A study of 17,152 patients with cancer identified pathogenic germline variants in cancer predisposition genes. Although tumors showed biallelic inactivation for high-penetrance genes, this was not the case in most patients with pathogenic variants in low-penetrance genes, suggesting alternative routes to tumorigenesis.
Source: Nature GeneticsCategories: Latest Headlines, Oncologists2Tweet
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Mashup Score: 2
Genome-wide association analysis of irritable bowel syndrome identifies genetic susceptibility loci and highlights shared pathways with mood and anxiety disorders.
Source: Nature GeneticsCategories: Gastroenterology, Latest HeadlinesTweet
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Mashup Score: 75The context-specific role of germline pathogenicity in tumorigenesis - Nature Genetics - 2 year(s) ago
A study of 17,152 patients with cancer identified pathogenic germline variants in cancer predisposition genes. Although tumors showed biallelic inactivation for high-penetrance genes, this was not the case in most patients with pathogenic variants in low-penetrance genes, suggesting alternative routes to tumorigenesis.
Source: Nature GeneticsCategories: Hem/Oncs, Latest HeadlinesTweet
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Mashup Score: 5
Oncogene amplification is a major driver of tumorigenesis; yet, the mechanisms generating amplification are only partially understood. New research reports on the identification of a new focal amplification pattern termed ‘seismic amplification’ that is hypothesized to originate from recombination between extrachromosomal DNA circles.
Source: Nature GeneticsCategories: Genetics, Latest HeadlinesTweet
2. Pirruccello et al. use deep learning to perform a genetic analysis of the human thoracic aorta. https://t.co/l3GVwxCfmx @jpirruccello @patrick_ellinor https://t.co/GmpGU7jmFv