#exome — Public Fediverse posts
Live and recent posts from across the Fediverse tagged #exome, aggregated by home.social.
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https://www.europesays.com/afrique/90240/ La Tunisie accélère dans la médecine génomique avec une première nationale réussie #BiotechnologiesTunisie #cancer #exome #GénomeHumain #GenomeTunisia #GénomiqueTunisie #InstitutPasteurDeTunis #MaladiesRares #MédecineDePrécision #NovaSeqXPlus #SéquençageADN #Tunisie
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Pipeline release! nf-core/oncoanalyser v2.3.0 - 2.3.0 - Spotted Nightjar!
A comprehensive cancer DNA/RNA analysis and reporting pipeline
Please see the changelog: https://github.com/nf-core/oncoanalyser/releases/tag/2.3.0#cancer #clinical #dna #exome #ngs #panel #rna #targeted #wgs #wigits #wts #nfcore #openscience #nextflow #bioinformatics
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Pipeline release! nf-core/oncoanalyser v2.3.0 - 2.3.0 - Spotted Nightjar!
A comprehensive cancer DNA/RNA analysis and reporting pipeline
Please see the changelog: https://github.com/nf-core/oncoanalyser/releases/tag/2.3.0#cancer #clinical #dna #exome #ngs #panel #rna #targeted #wgs #wigits #wts #nfcore #openscience #nextflow #bioinformatics
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Pipeline release! nf-core/oncoanalyser v2.3.0 - 2.3.0 - Spotted Nightjar!
A comprehensive cancer DNA/RNA analysis and reporting pipeline
Please see the changelog: https://github.com/nf-core/oncoanalyser/releases/tag/2.3.0#cancer #clinical #dna #exome #ngs #panel #rna #targeted #wgs #wigits #wts #nfcore #openscience #nextflow #bioinformatics
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Pipeline release! nf-core/oncoanalyser v2.3.0 - 2.3.0 - Spotted Nightjar!
A comprehensive cancer DNA/RNA analysis and reporting pipeline
Please see the changelog: https://github.com/nf-core/oncoanalyser/releases/tag/2.3.0#cancer #clinical #dna #exome #ngs #panel #rna #targeted #wgs #wigits #wts #nfcore #openscience #nextflow #bioinformatics
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Pipeline release! nf-core/oncoanalyser v2.3.0 - 2.3.0 - Spotted Nightjar!
A comprehensive cancer DNA/RNA analysis and reporting pipeline
Please see the changelog: https://github.com/nf-core/oncoanalyser/releases/tag/2.3.0#cancer #clinical #dna #exome #ngs #panel #rna #targeted #wgs #wigits #wts #nfcore #openscience #nextflow #bioinformatics
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https://www.europesays.com/uk/503861/ Illumina’s constellation tech a star in Genedx pilot #BioWorldMedTech #clinical #constellation #Diagnostics #exome #GeneDx #Genetics #Genomics #IlluminaInc. #Medtech #Neonatal/pediatrics #NewbornScreening #Novaseq #Science #U.S. #UK #UnitedKingdom
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Illumina’s constellation tech a star in Genedx pilot
Genedx LLC partnered with Illumina Inc. to test whether Illumina’s constellation map read technology could shed light on…
#NewsBeep #News #Genetics #BioWorldMedTech #clinical #Constellation #Diagnostics #exome #GeneDx #Genomics #IlluminaInc. #Medtech #Neonatal/pediatrics #NewbornScreening #Novaseq #Science #U.S. #UK #UnitedKingdom
https://www.newsbeep.com/uk/203924/ -
Do you know what’s in your DNA? If not, that’s a problem | Columns
Genetic information can be life-saving in a medical emergency, yet it’s still rarely collected from adults — even…
#NewsBeep #News #Genetics #aneurysm #Biology #clinicalmedicine #diseasesanddisorders #EhlersDanlosSyndrome #exome #geneticdiscrimination #genetictesting #Health #Healthcare #healthsciences #heartfailure #medicalspecialties #medicine #Mutation #Science #UK #UnitedKingdom
https://www.newsbeep.com/uk/98388/ -
Back from #Zakopane 🇵🇱 from the Annual Meeting of the Research Consortium on #T1D #Exome Studies in Central and Eastern #Europe. 🧬🔍 And no, you’re not the only one wondering what a psychologist was doing at a conference knee-deep in sequencing data and genetic variants. But science, like life, has a funny way of connecting people. A chance encounter years ago in Michigan led me here: a collaboration on the largest exome sequencing study for Type 1 #Diabetes in this part of the world! ✨ More info (hopefully) soon. 🤫 https://genes.uzhnu.edu.ua/ 🇺🇦
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Back from #Zakopane 🇵🇱 from the Annual Meeting of the Research Consortium on #T1D #Exome Studies in Central and Eastern #Europe. 🧬🔍 And no, you’re not the only one wondering what a psychologist was doing at a conference knee-deep in sequencing data and genetic variants. But science, like life, has a funny way of connecting people. A chance encounter years ago in Michigan led me here: a collaboration on the largest exome sequencing study for Type 1 #Diabetes in this part of the world! ✨ More info (hopefully) soon. 🤫 https://genes.uzhnu.edu.ua/ 🇺🇦
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Back from #Zakopane 🇵🇱 from the Annual Meeting of the Research Consortium on #T1D #Exome Studies in Central and Eastern #Europe. 🧬🔍 And no, you’re not the only one wondering what a psychologist was doing at a conference knee-deep in sequencing data and genetic variants. But science, like life, has a funny way of connecting people. A chance encounter years ago in Michigan led me here: a collaboration on the largest exome sequencing study for Type 1 #Diabetes in this part of the world! ✨ More info (hopefully) soon. 🤫 https://genes.uzhnu.edu.ua/ 🇺🇦
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Large UK biobank #exome sequencing study identifies gene variants associated with socioeconomic status (income, education,...). (No, these variants do *not determine* your income.) #genetics #sociology
https://www.pnas.org/doi/abs/10.1073/pnas.2414018122?af=R -
Large UK biobank #exome sequencing study identifies gene variants associated with socioeconomic status (income, education,...). (No, these variants do *not determine* your income.) #genetics #sociology
https://www.pnas.org/doi/abs/10.1073/pnas.2414018122?af=R -
Large UK biobank #exome sequencing study identifies gene variants associated with socioeconomic status (income, education,...). (No, these variants do *not determine* your income.) #genetics #sociology
https://www.pnas.org/doi/abs/10.1073/pnas.2414018122?af=R -
https://www.nature.com/articles/s41525-024-00390-3 A cost-effective sequencing method for genetic studies combining high-depth whole #exome and low-depth whole #genome #genomics
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https://www.nature.com/articles/s41525-024-00390-3 A cost-effective sequencing method for genetic studies combining high-depth whole #exome and low-depth whole #genome #genomics
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https://www.nature.com/articles/s41525-024-00390-3 A cost-effective sequencing method for genetic studies combining high-depth whole #exome and low-depth whole #genome #genomics
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https://www.nature.com/articles/s41588-023-01637-y
"Public platform with 39,472 #exome control samples enables association studies without genotype sharing"
We provide access to a library of 39,472 exome sequencing controls at http://dnascore.net enabling association studies for case cohorts lacking control subjects. Using this approach, control sets can be selected from this online library with a prespecified matching accuracy, ensuring well-calibrated association analysis for both rare and common variants.
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https://www.nature.com/articles/s41588-023-01637-y
"Public platform with 39,472 #exome control samples enables association studies without genotype sharing"
We provide access to a library of 39,472 exome sequencing controls at http://dnascore.net enabling association studies for case cohorts lacking control subjects. Using this approach, control sets can be selected from this online library with a prespecified matching accuracy, ensuring well-calibrated association analysis for both rare and common variants.
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https://www.nature.com/articles/s41588-023-01637-y
"Public platform with 39,472 #exome control samples enables association studies without genotype sharing"
We provide access to a library of 39,472 exome sequencing controls at http://dnascore.net enabling association studies for case cohorts lacking control subjects. Using this approach, control sets can be selected from this online library with a prespecified matching accuracy, ensuring well-calibrated association analysis for both rare and common variants.
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The Mexico City Prospective Study is a prospective cohort of more than 150,000 adults recruited two decades ago from the urban districts of Coyoacán and Iztapalapa in Mexico City. Here we generated genotype and exome-sequencing data for all individuals and whole-genome sequencing data for 9,950 selected individuals. #isogg #dna #mexico #geneadons #nature #genetics #exome #indigenous #wholegenomesequencing
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The Mexico City Prospective Study is a prospective cohort of more than 150,000 adults recruited two decades ago from the urban districts of Coyoacán and Iztapalapa in Mexico City. Here we generated genotype and exome-sequencing data for all individuals and whole-genome sequencing data for 9,950 selected individuals. #isogg #dna #mexico #geneadons #nature #genetics #exome #indigenous #wholegenomesequencing
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The Mexico City Prospective Study is a prospective cohort of more than 150,000 adults recruited two decades ago from the urban districts of Coyoacán and Iztapalapa in Mexico City. Here we generated genotype and exome-sequencing data for all individuals and whole-genome sequencing data for 9,950 selected individuals. #isogg #dna #mexico #geneadons #nature #genetics #exome #indigenous #wholegenomesequencing
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A genomics company is providing precision medicine analytics from its databases with generative A.I. based on large language models from Amazon Web Services.
https://sciencebusiness.technewslit.com/?p=45227
#News #Press #Science #Business #Biotechnology #ArtificialIntelligence #Genome #Exome #MachineLearning #LargeLanguageModels #GenerativeAI #Sequencing #Software #Analytics
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A genomics company is providing precision medicine analytics from its databases with generative A.I. based on large language models from Amazon Web Services.
https://sciencebusiness.technewslit.com/?p=45227
#News #Press #Science #Business #Biotechnology #ArtificialIntelligence #Genome #Exome #MachineLearning #LargeLanguageModels #GenerativeAI #Sequencing #Software #Analytics
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A genomics company is providing precision medicine analytics from its databases with generative A.I. based on large language models from Amazon Web Services.
https://sciencebusiness.technewslit.com/?p=45227
#News #Press #Science #Business #Biotechnology #ArtificialIntelligence #Genome #Exome #MachineLearning #LargeLanguageModels #GenerativeAI #Sequencing #Software #Analytics
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A new #preprint #OpenScience #PeerReview by @PCIgenomics: G. Aubert et al. #SNP discovery by #exome capture and resequencing in a #pea genetic resource collection. #bioRxiv https://doi.org/10.1101/2022.08.03.502586 🔽
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A new #preprint #OpenScience #PeerReview by @PCIgenomics: G. Aubert et al. #SNP discovery by #exome capture and resequencing in a #pea genetic resource collection. #bioRxiv https://doi.org/10.1101/2022.08.03.502586 🔽
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A new #preprint #OpenScience #PeerReview by @PCIgenomics: G. Aubert et al. #SNP discovery by #exome capture and resequencing in a #pea genetic resource collection. #bioRxiv https://doi.org/10.1101/2022.08.03.502586 🔽
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Polygenic architecture of rare coding variation across 400,000 exomes https://www.medrxiv.org/content/10.1101/2022.07.06.22277335v2 #genomics #genome #burden #exome "Here, we quantify the heritability explained by gene-wise burden of rare coding variants and compare the genetic architecture of common and rare variation across 22 common traits and diseases in 400,000 #UKBiobank exomes"
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Polygenic architecture of rare coding variation across 400,000 exomes https://www.medrxiv.org/content/10.1101/2022.07.06.22277335v2 #genomics #genome #burden #exome "Here, we quantify the heritability explained by gene-wise burden of rare coding variants and compare the genetic architecture of common and rare variation across 22 common traits and diseases in 400,000 #UKBiobank exomes"
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Polygenic architecture of rare coding variation across 400,000 exomes https://www.medrxiv.org/content/10.1101/2022.07.06.22277335v2 #genomics #genome #burden #exome "Here, we quantify the heritability explained by gene-wise burden of rare coding variants and compare the genetic architecture of common and rare variation across 22 common traits and diseases in 400,000 #UKBiobank exomes"
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ÉCOLE: Learning to call copy number variants on whole #exome #sequencing data #wes https://www.biorxiv.org/content/10.1101/2022.11.17.516880v1 #CNV "Based on a variant of the transformer architecture, the model learns to call CNVs per exon, using high confidence calls made on matched WGS samples. We further train and fine-tune the model with a small set of expert calls via transfer learning. "
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ÉCOLE: Learning to call copy number variants on whole #exome #sequencing data #wes https://www.biorxiv.org/content/10.1101/2022.11.17.516880v1 #CNV "Based on a variant of the transformer architecture, the model learns to call CNVs per exon, using high confidence calls made on matched WGS samples. We further train and fine-tune the model with a small set of expert calls via transfer learning. "