Transcriptomic and genomic variants between koala populations reveals underlying genetic components to disorders in a bottlenecked population
Sign Up to like & getrecommendations! Published in 2021 at "Conservation Genetics"
DOI: 10.1007/s10592-021-01340-7
Abstract: Historical hunting pressures on koalas in the southern part of their range in Australia have led to a marked genetic bottleneck when compared with their northern counterparts. There are a range of suspected genetic disorders… read more here.
Keywords: genomic variants; population; variants koala; two populations ... See more keywords
P60.09 Real-World Readiness of US Laboratories to Test Metastatic NSCLC Patients for Rare Actionable Genomic Variants by NGS
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Thoracic Oncology"
DOI: 10.1016/j.jtho.2021.08.630
Abstract: Introduction: Various rare driver genomic variants have been investigated in metastatic non-squamous non-small cell lung cancer (mNSCLC). Individually they are considered rare ( read more here.
Keywords: medicine; real world; mnsclc; genomic variants ... See more keywords
A harmonized meta-knowledgebase of clinical interpretations of somatic genomic variants in cancer
Sign Up to like & getrecommendations! Published in 2020 at "Nature Genetics"
DOI: 10.1038/s41588-020-0603-8
Abstract: Precision oncology relies on accurate discovery and interpretation of genomic variants, enabling individualized diagnosis, prognosis and therapy selection. We found that six prominent somatic cancer variant knowledgebases were highly disparate in content, structure and supporting… read more here.
Keywords: genomic variants; meta knowledgebase; knowledgebase; harmonized meta ... See more keywords
Establishing the Medical Actionability of Genomic Variants
Sign Up to like & getrecommendations! Published in 2022 at "Annual review of genomics and human genetics"
DOI: 10.1146/annurev-genom-111021-032401
Abstract: Actionability is an important concept in medicine that does not have a well-accepted standard definition, nor is there a general consensus on how to establish it. Medical actionability is often conflated with clinical utility, a… read more here.
Keywords: actionability; actionability genomic; establishing medical; genomic variants ... See more keywords
Detection of False-Positive Deletions from the Database of Genomic Variants
Sign Up to like & getrecommendations! Published in 2019 at "BioMed Research International"
DOI: 10.1155/2019/8420547
Abstract: Next generation sequencing is an emerging technology that has been widely used in the detection of genomic variants. However, since its depth of coverage, a main signature used for variant calling, is affected greatly by… read more here.
Keywords: genomic variants; database genomic; false positives; positive deletions ... See more keywords
Genome Nexus: A Comprehensive Resource for the Annotation and Interpretation of Genomic Variants in Cancer
Sign Up to like & getrecommendations! Published in 2022 at "JCO Clinical Cancer Informatics"
DOI: 10.1200/cci.21.00144
Abstract: PURPOSE Interpretation of genomic variants in tumor samples still presents a challenge in research and the clinical setting. A major issue is that information for variant interpretation is fragmented across disparate databases, and aggregation of… read more here.
Keywords: interpretation genomic; genome nexus; genomic variants; annotation ... See more keywords
Characterizing the landscape of genomic variants in high-risk pediatric osteosarcoma.
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Clinical Oncology"
DOI: 10.1200/jco.2020.38.15_suppl.11530
Abstract: 11530Background: Survival rates for patients with metastatic and/or recurrent osteosarcoma are poor, and treatment strategies have remained unchanged for more than three decades. Genomic characteri... read more here.
Keywords: characterizing landscape; genomic variants; landscape genomic; high risk ... See more keywords
Dating genomic variants and shared ancestry in population-scale sequencing data
Sign Up to like & getrecommendations! Published in 2020 at "PLoS Biology"
DOI: 10.1371/journal.pbio.3000586
Abstract: The origin and fate of new mutations within species is the fundamental process underlying evolution. However, while much attention has been focused on characterizing the presence, frequency, and phenotypic impact of genetic variation, the evolutionary… read more here.
Keywords: genomic variants; sequencing data; age; variants shared ... See more keywords
Genomic variants reveal differential evolutionary constraints on human transglutaminases and point towards unrecognized significance of transglutaminase 2
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DOI: 10.1371/journal.pone.0172189
Abstract: Transglutaminases (TGMs) catalyze Ca2+-dependent transamidation of proteins with specified roles in blood clotting (F13a) and in cornification (TGM1, TGM3). The ubiquitous TGM2 has well described enzymatic and non-enzymatic functions but in-spite of numerous studies its… read more here.
Keywords: reveal differential; tgm2; human transglutaminases; genomic variants ... See more keywords
Genomic variants from RNA-seq for goats resistant or susceptible to gastrointestinal nematode infection
Sign Up to like & getrecommendations! Published in 2021 at "PLoS ONE"
DOI: 10.1371/journal.pone.0248405
Abstract: Gastrointestinal nematodes (GIN) are an important constraint in small ruminant production. Genetic selection for resistant animals is a potential sustainable control strategy. Advances in molecular genetics have led to the identification of several molecular genetic… read more here.
Keywords: variants rna; genomic variants; seq goats; goats resistant ... See more keywords
Classical and Next-Generation Vaccine Platforms to SARS-CoV-2: Biotechnological Strategies and Genomic Variants
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Environmental Research and Public Health"
DOI: 10.3390/ijerph19042392
Abstract: Several coronaviruses (CoVs) have been identified as human pathogens, including the α-CoVs strains HCoV-229E and HCoV-NL63 and the β-CoVs strains HCoV-HKU1 and HCoV-OC43. SARS-CoV, MERS-CoV, and SARS-CoV-2 are also classified as β-coronavirus. New SARS-CoV-2 spike… read more here.
Keywords: sars cov; next generation; genomic variants; classical next ... See more keywords