Analyzing rare mutations in metagenomes assembled using long and accurate reads
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DOI: 10.1101/gr.276917.122
Abstract: The advent of long and accurate “HiFi” reads has greatly improved our ability to generate complete metagenome-assembled genomes (MAGs), enabling “complete metagenomics” studies that were nearly impossible to conduct with short reads. In particular, HiFi… read more here.
Keywords: assembled using; rare mutations; hifi; mutations mags ... See more keywords
A neurodegenerative disease landscape of rare mutations in Colombia due to founder effects
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DOI: 10.1186/s13073-022-01035-9
Abstract: Background The Colombian population, as well as those in other Latin American regions, arose from a recent tri-continental admixture among Native Americans, Spanish invaders, and enslaved Africans, all of whom passed through a population bottleneck… read more here.
Keywords: founder effects; founder; landscape; neurodegenerative disease ... See more keywords
Deleterious Rare Mutations of GLI1 Dysregulate Sonic Hedgehog Signaling in Human Congenital Heart Disease
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DOI: 10.3389/fcvm.2022.798033
Abstract: The Glioma-associated oncogene (Gli) family members of zinc finger DNA-binding proteins are core effectors of Sonic hedgehog (SHH) signaling pathway. Studies in model organisms have identified that the Gli genes play critical roles during organ… read more here.
Keywords: mutations gli1; rare mutations; congenital heart; sonic hedgehog ... See more keywords
Treatment of Rare Mutations in Patients with Lung Cancer
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DOI: 10.3390/biomedicines9050534
Abstract: Lung cancer is a worldwide prevalent malignancy. This disease has a low survival rate due to diagnosis at a late stage challenged by the involvement of metastatic sites. Non-small-cell lung cancer (NSCLC) is presented in… read more here.
Keywords: cancer; treatment rare; rare mutations; lung cancer ... See more keywords