Top Tweets for #usingvep
Novel genetic variants linked to inborn errors of #immunity.
@PLOSONE
https://t.co/HCzmo1n3GV
#UsingEnsembl #UsingVEP #VEP
The #mutation profile of differentiated #thyroid cancer coexisting with undifferentiated anaplastic #cancer resembles that of anaplastic thyroid cancer
@SpringerNature
https://t.co/QtIMGLrwIF
#UsingEnsembl #UsingVEP #CitedEnsembl
Characterization of 25 #pharmacogenes in #Thai population from #WGS reveals population-specific #variation potentially explaining #drug response.
@SciReports
https://t.co/m5kvdCw7Gd
#UsingEnsembl #UsingVEP #VEP #BioMart #CitedEnsembl #UsingBioMart
Population #genetic screening efficiently identifies carriers of autosomal dominant #diseases.
@NatureMedicine
https://t.co/s1nZIexS3v
#UsingEnsembl #UsingVEP #EnsemblVEP
A novel stop-gain #mutation in #DPYS #gene causing Dihidropyrimidinase deficiency.
@BioMedCentral @OAgenetics
https://t.co/Qj8OD5mMvM
#CitedEnsembl #UsingVEP #EnsemblVEP
#Genomic and #transcriptomic analysis of tumour development in synchronous #colorectalcancer patients reveals the importance of #personalisedmedicine
#UsingEnsembl #UsingVEP
@Nature_NPJ @TheCancerGenome @valentinajnt
https://t.co/m8fdYEzUcJ
A case study of an Iranian family identifies a novel stop-gain mutation in DPYS #gene causing Dihidropyrimidinase deficiency
#UsingEnsembl #UsingVEP
@OAgenetics
https://t.co/QXRbRynqYc
Targeted sequencing of 54 #genes in 26 patients reveals novel #genetic variations associated with acute myeloid #leukemia in #Pakistani population ๐ต๐ฐ
#UsingEnsembl #VEP #UsingVEP
@FrontGenetics @1000genomes @aiysha_abid @tahirshamsi
https://t.co/RpCzBYrVUM
FLT3 stop #mutation increases #FLT3 ligand level and risk of autoimmune #thyroid disease according to a new study published in @nature.
@KariStefans
https://t.co/Fsu5EzwC6P
#UsingEnsembl #UsingVEP #VEP
Our live #eshg2020 #workshop starts in an hour!
๐ฃInterpreting genetic variation in #clinical research using Ensembl.
Join to hear about Ensembl & @GencodeGenes, #MANE, Transcript Archive, #VEP and more!
https://t.co/06xFyVPfwm
Starts 13:45 CEST โผ๏ธ
#EnsemblTraining #UsingVEP
The B-cell inhibitory receptor CD22 is a major factor in host resistance to #Streptococcus pneumoniae #infection. @PLOSPathogens
https://t.co/X9FnLwqLBF
#UsingEnsembl #UsingVEP #pneumonia
Frame-shift #mutation in IDUA has been linked to lysosomal storage #disease (MPS type 1) in #dog and might represent a promising model for human #MPS I ๐
@SciReports
https://t.co/1Pj6qeQ1Im
#UsingEnsembl #UsingVEP #CitedEnsembl
High toxicity rates of #leukemia thiopurine-based drugs in #Amerindian and admixed populations from northern #Brazil have been linked to NUDT15 variants.
@PLOSONE
https://t.co/toOD5ShZN6
#UsingEnsembl #UsingVEP
Genetic control of gene #expression in human #brain:
regulatory sites for #splicing in basal ganglia are enriched for #disease-relevant information. @NatureComms @mikeweale
https://t.co/TGXFwGEF7q
#UsingVEP #CitedEnsembl
#Autism spectrum disorder and attention deficit hyperactivity disorder have a similar burden of rare protein-truncating variants in evolutionarily constrained genes, including MAP1A. @dalygene @Sirt3
https://t.co/7WpSHp3q3p @NatureNeuro
#UsingVEP #UsingEnsembl #ADHD
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