Identifying genetic variants underlying phenotypic variation in plants without complete genomes
Sign Up to like & getrecommendations! Published in 2020 at "Nature genetics"
DOI: 10.1038/s41588-020-0612-7
Abstract: Structural variants and presence/absence polymorphisms are common in plant genomes, yet they are routinely overlooked in genome-wide association studies (GWAS). Here, we expand the type of genetic variants detected in GWAS to include major deletions,… read more here.
Keywords: phenotypic variation; genetic variants; structural variants; identifying genetic ... See more keywords
TraPS-VarI: Identifying genetic variants altering phosphotyrosine based signalling motifs
Sign Up to like & getrecommendations! Published in 2020 at "Scientific Reports"
DOI: 10.1038/s41598-020-65146-2
Abstract: Patient stratification and individualized therapeutic strategies rely on the established knowledge of genotype-specific molecular and cellular alterations of biological and therapeutic significance. Whilst almost all approved drugs have been developed based on the Reference Sequence… read more here.
Keywords: variants altering; altering phosphotyrosine; genetic variants; vari identifying ... See more keywords
The clinical value of identifying genetic abnormalities that can be targeted in cholangiocarcinomas
Sign Up to like & getrecommendations! Published in 2023 at "Expert Review of Anticancer Therapy"
DOI: 10.1080/14737140.2023.2170878
Abstract: ABSTRACT Introduction Cholangiocarcinomas (CCAs) are a heterogenous group of epithelial malignancies originating at any level of the biliary tree and are subdivided according to their location into intrahepatic (iCCA) and extrahepatic (eCCA). Areas covered This… read more here.
Keywords: abnormalities targeted; clinical value; value identifying; targeted cholangiocarcinomas ... See more keywords
Identifying the genetic basis of viral spillover using Lassa virus as a test case
Sign Up to like & getrecommendations! Published in 2023 at "Royal Society Open Science"
DOI: 10.1098/rsos.221503
Abstract: The rate at which zoonotic viruses spill over into the human population varies significantly over space and time. Remarkably, we do not yet know how much of this variation is attributable to genetic variation within… read more here.
Keywords: lassa virus; identifying genetic; population; virus ... See more keywords
Abstract 4306: Identifying genetic dependencies of replication stress using interpretable artificial intelligence
Sign Up to like & getrecommendations! Published in 2023 at "Cancer Research"
DOI: 10.1158/1538-7445.am2023-4306
Abstract: Rapid proliferation is a hallmark of tumor cells, associated with sensitivity to chemicals that cause DNA replication stress (RS). Due to sustained proliferative signaling and/or defective DNA repair, cancer cells undergo persistent RS making them… read more here.
Keywords: stress; replication; replication stress; genetic dependencies ... See more keywords
Identifying Genetic Susceptibility in Neonates With Hypoxic-Ischemic Encephalopathy: A Retrospective Case Series
Sign Up to like & getrecommendations! Published in 2023 at "Journal of Child Neurology"
DOI: 10.1177/08830738221147805
Abstract: Neonatal hypoxic-ischemic encephalopathy is a clinical phenomenon that often results from perinatal asphyxia. To mitigate secondary neurologic injury, prompt initial assessment and diagnosis is needed to identify patients eligible for therapeutic hypothermia. However, occasionally neonates… read more here.
Keywords: patients genetic; hypoxic ischemic; genetic susceptibility; ischemic encephalopathy ... See more keywords
Identifying genetic markers for a range of phylogenetic utility–From species to family level
Sign Up to like & getrecommendations! Published in 2019 at "PLoS ONE"
DOI: 10.1371/journal.pone.0218995
Abstract: Resolving the phylogenetic relationships of closely related species using a small set of loci is challenging as sufficient information may not be captured from a limited sample of the genome. Relying on few loci can… read more here.
Keywords: phylogenetic utility; range phylogenetic; family; markers range ... See more keywords
Identifying genetic variants regulating MGMT gene expression - A study in monozygotic Danish twins.
Sign Up to like & getrecommendations! Published in 2023 at "Genomics"
DOI: 10.2139/ssrn.4329759
Abstract: Identifying genetic factors affecting the regulation of the O-6-Methylguanine-DNA Methyltransferase (MGMT) gene and estimating the genetic contribution of the MGMT gene through within-pair correlation in monozygotic twin pairs is of particular importance in various types… read more here.
Keywords: expression; mgmt gene; gene; study ... See more keywords
Identifying the genetic causes of developmental disorders and intellectual disability in Africa: a systematic literature review
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2023.1137922
Abstract: Objective: Genetic variants cause a significant portion of developmental disorders and intellectual disabilities (DD/ID), but clinical and genetic heterogeneity makes identification challenging. Compounding the issue is a lack of ethnic diversity in studies into the… read more here.
Keywords: review; developmental disorders; africa systematic; disorders intellectual ... See more keywords
Recent progress in identifying genetic and epigenetic contributions to epilepsy
Sign Up to like & getrecommendations! Published in 2017 at "Reproductive and Developmental Medicine"
DOI: 10.4103/2096-2924.224912
Abstract: Epilepsy is a serious disorder of the central nervous system characterized by recurrent seizures. There are many known causes of epilepsy, including genetic factors, brain damage, and environmental factors, but the pathogenic mechanisms are largely… read more here.
Keywords: progress identifying; epigenetic contributions; inherited forms; genetic epigenetic ... See more keywords