#variantannotation 搜尋結果
AdaGenes: A streaming processor for high-throughput annotation and filtering of sequence variant data. #GeneticVariants #VariantFiltering #VariantAnnotation #VCFs #Genomics #Bioinformatics @biorxiv_bioinfo biorxiv.org/content/10.110…
Our #VariantAnnotation session will cover strategies for implementing necessary tools & sample code for attendees to get up & running on their projects on the @uk_biobank Research Analysis Platform. hubs.ly/Q01HHfpv0
TOMORROW: @KarchinRachel & @DCGenomics will show how to perform large-scale #VariantAnnotation on the @uk_biobank dataset. Register now: hubs.ly/Q01KCk1j0
Learn about the strategies & tools necessary for performing large-scale #VariantAnnotation on the @uk_biobank dataset using the Research Analysis Platform. Register for the session on 4/13: hubs.ly/Q01HH9Xp0 #Genomics #Bioinformatics #UKBiobank
FAVOR-GPT: A generative Natural Language Interface to Whole Genome Variant Functional Annotations. #WGS #WES #VariantAnnotation #LLMs @BioinfoAdv academic.oup.com/bioinformatics…
WEBINAR TOMORROW: @DCGenomics @KymPagel & @stephanheijl survey the #variantannotation platform landscape, including OpenCRAVAT, Bio-Prodict, and more. dnanexus.zoom.us/webinar/regist…
Using the #VariantAnnotation database for human samples #Genomics #NGS #VariantAnalysis ow.ly/utiq30eUYgX
Annotation Query (AnnoQ): an integrated and interactive platform for large-scale genetic variant annotation. #VariantAnnotation #Bioinformatics academic.oup.com/nar/advance-ar… @NAR_Open
Join @KarchinRachel & @DCGenomics on April 13th as they cover strategies & suggested tools for performing #VariantAnnotation, all of which are easy to run in Jupyter Notebooks. #Genomics #Bioinformatics #UKBiobank hubs.ly/Q01HH9XL0
STAAR Workflow: A cloud-based workflow for scalable and reproducible rare variant analysis. #VariantAnalysis #WDL #VariantAnnotation academic.oup.com/bioinformatics… #Bioinformatics
utr.annotation: a tool for annotating genomic variants that could influence post-transcriptional regulation. #UTRs #VariantAnnotation academic.oup.com/bioinformatics… #Bioinformatics
Get up-to-date variant annotations via our easy2use #python client. myvariant.info/myvariant-py-o… #bioinformatics #variantannotation
Towards robust clinical genome interpretation: developing a consistent terminology to characterize Mendelian disease-gene relationships… gimjournal.org/article/S1098-… (OA) “… to facilitate harmonized global curation, and to support variant classification #VariantAnnotation👏
Gene Curation Coalition (#GenCC) supports harmonization across genomic resources, improving #variantcuration, classification, and reporting #genecuration #ontology #geneticdiagnosis bit.ly/3R1jnbu
Annotating and prioritising genomic variants using the Ensembl Variant Effect Predictor ‐ a tutorial. #GenomicVariants #VariantAnnotation #VariantPrioritisation #VEP #Tutorial onlinelibrary.wiley.com/doi/10.1002/hu… #HumanMutation
iVar, an Interpretation-Oriented Tool to Manage the Update and Revision of Variant Annotation and Classification #NGS #VariantAnnotation #DataManagement #ClinicalGenomics mdpi.com/1026166 @MDPIOpenAccess
SVAT: Secure outsourcing of variant annotation and genotype aggregation. #VariantAnnotation @BMCBioinfo bmcbioinformatics.biomedcentral.com/articles/10.11…
link.springer.com
SVAT: Secure outsourcing of variant annotation and genotype aggregation
BMC Bioinformatics - Sequencing of thousands of samples provides genetic variants with allele frequencies spanning a very large spectrum and gives invaluable insight into genetic determinants of...
FAVOR: Functional Annotation of Variants Online Resource and Annotator for Variation across the Human Genome. #VariantAnnotation #HumanGenome #WebTool @biorxivpreprint biorxiv.org/content/10.110…
#VariantAnnotation is an important step in the Clinical NGS Workflow. Let's understand which annotation databases are used by the community via this poll. #genomics #bioinformatics #clinicalngs
Nice to hear from @magnusnordborg that genomic/RNA-Seq/BS-Seq data for many Arabidopsis accessions is being generated! #variantannotation
#VariantAnnotation still remains unsolved (or agreed to). Work here looks very promising! Thanks @gabeinformatics
I'm putting a stake in the ground with my latest blog post: VarSeq is a better ANNOVAR, snpEff and VEP blog.goldenhelix.com/grudy/varseq-i…
AdaGenes: A streaming processor for high-throughput annotation and filtering of sequence variant data. #GeneticVariants #VariantFiltering #VariantAnnotation #VCFs #Genomics #Bioinformatics @biorxiv_bioinfo biorxiv.org/content/10.110…
FAVOR-GPT: A generative Natural Language Interface to Whole Genome Variant Functional Annotations. #WGS #WES #VariantAnnotation #LLMs @BioinfoAdv academic.oup.com/bioinformatics…
Towards robust clinical genome interpretation: developing a consistent terminology to characterize Mendelian disease-gene relationships… gimjournal.org/article/S1098-… (OA) “… to facilitate harmonized global curation, and to support variant classification #VariantAnnotation👏
Gene Curation Coalition (#GenCC) supports harmonization across genomic resources, improving #variantcuration, classification, and reporting #genecuration #ontology #geneticdiagnosis bit.ly/3R1jnbu
TOMORROW: @KarchinRachel & @DCGenomics will show how to perform large-scale #VariantAnnotation on the @uk_biobank dataset. Register now: hubs.ly/Q01KCk1j0
Our #VariantAnnotation session will cover strategies for implementing necessary tools & sample code for attendees to get up & running on their projects on the @uk_biobank Research Analysis Platform. hubs.ly/Q01HHfpv0
Join @KarchinRachel & @DCGenomics on April 13th as they cover strategies & suggested tools for performing #VariantAnnotation, all of which are easy to run in Jupyter Notebooks. #Genomics #Bioinformatics #UKBiobank hubs.ly/Q01HH9XL0
Learn about the strategies & tools necessary for performing large-scale #VariantAnnotation on the @uk_biobank dataset using the Research Analysis Platform. Register for the session on 4/13: hubs.ly/Q01HH9Xp0 #Genomics #Bioinformatics #UKBiobank
SVAT: Secure outsourcing of variant annotation and genotype aggregation. #VariantAnnotation @BMCBioinfo bmcbioinformatics.biomedcentral.com/articles/10.11…
link.springer.com
SVAT: Secure outsourcing of variant annotation and genotype aggregation
BMC Bioinformatics - Sequencing of thousands of samples provides genetic variants with allele frequencies spanning a very large spectrum and gives invaluable insight into genetic determinants of...
AdaGenes: A streaming processor for high-throughput annotation and filtering of sequence variant data. #GeneticVariants #VariantFiltering #VariantAnnotation #VCFs #Genomics #Bioinformatics @biorxiv_bioinfo biorxiv.org/content/10.110…
TOMORROW: @KarchinRachel & @DCGenomics will show how to perform large-scale #VariantAnnotation on the @uk_biobank dataset. Register now: hubs.ly/Q01KCk1j0
Our #VariantAnnotation session will cover strategies for implementing necessary tools & sample code for attendees to get up & running on their projects on the @uk_biobank Research Analysis Platform. hubs.ly/Q01HHfpv0
WEBINAR TOMORROW: @DCGenomics @KymPagel & @stephanheijl survey the #variantannotation platform landscape, including OpenCRAVAT, Bio-Prodict, and more. dnanexus.zoom.us/webinar/regist…
Learn about the strategies & tools necessary for performing large-scale #VariantAnnotation on the @uk_biobank dataset using the Research Analysis Platform. Register for the session on 4/13: hubs.ly/Q01HH9Xp0 #Genomics #Bioinformatics #UKBiobank
Join @KarchinRachel & @DCGenomics on April 13th as they cover strategies & suggested tools for performing #VariantAnnotation, all of which are easy to run in Jupyter Notebooks. #Genomics #Bioinformatics #UKBiobank hubs.ly/Q01HH9XL0
Using the #VariantAnnotation database for human samples #Genomics #NGS #VariantAnalysis ow.ly/utiq30eUYgX
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