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Peer Community In · @PeerCommunityIn

1240 followers · 385 posts · Server ecoevo.social

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 🔽

#preprint #OpenScience #PeerReview #snp #exome #pea #biorxiv

Last updated 2 years ago

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Robert Castelo · @robertclab

98 followers · 371 posts · Server genomic.social

RT @smarie_smarie
Most promising method to identify drug targets? 🎯
- #GWAS
- #eQTL-GWAS
- #pQTL-GWAS
- #exome

Excited to share our new preprint where we compare all methods including #network approaches (https://www.medrxiv.org/content/10.1101/2023.03.21.23285637v1) Very grateful to all co-authors @zkutalik @CAuwerx @patrickdeelen

#GWAS #eqtl #pqtl #exome #network

Last updated 2 years ago

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Ashish Marwaha, BMBCh, MA, PhD · @DrAshMarwaha

63 followers · 191 posts · Server genomic.social

Open media

RT @JIMD_Editors
What do you do after a "negative" exome? (no, not just send a genome)

Check out this paper from Wortmann et al discussing genetic diagnostics, limitations, challenges, and emerging new multiomics techniques

https://doi.org/10.1002/jimd.12507
#exome #NGS #multiomics #openaccess

#exome #ngs #multiomics #openaccess

Last updated 2 years ago

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Pierre Lindenbaum · @yokofakun

877 followers · 919 posts · Server genomic.social

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"

#genomics #genome #burden #exome #ukbiobank

Last updated 3 years ago

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Haojia Wu · @haojiawu

24 followers · 8 posts · Server mastodon.haojia-wu.com

A beautiful study on clear cell renal cell carcinoma (ccRCC). The authors used multiple omics approaches ( #scRNAseq, whole #exome sequencing, #TCR-seq, and Visium #SpatialTranscriptomics ) to study the immune cell clonotypes, somatic mutation, and epithelial-mesenchymal transition meta-program. Really impressed by the de novo somatic mutation calling methods (deSCeRNAMut) they developed to infer the clonality of the cells.
https://www.sciencedirect.com/science/article/pii/S1535610822005487

#scrnaseq #exome #tcr #spatialtranscriptomics

Last updated 3 years ago

Original post

Haojia Wu · @haojiawu

16 followers · 6 posts · Server mastodon.jiaworkspace.com

A beautiful study on clear cell renal cell carcinoma (ccRCC). The authors used multiple omics approaches ( #scRNAseq, whole #exome sequencing, #TCR-seq, and Visium #SpatialTranscriptomics ) to study the immune cell clonotypes, somatic mutation, and epithelial-mesenchymal transition meta-program. Really impressed by the de novo somatic mutation calling methods (deSCeRNAMut) they developed to infer the clonality of the cells.
https://www.sciencedirect.com/science/article/pii/S1535610822005487

#scrnaseq #exome #tcr #spatialtranscriptomics

Last updated 3 years ago

Original post

Pierre Lindenbaum · @yokofakun

458 followers · 237 posts · Server genomic.social

bioRxiv - ÉCOLE: Learning to call copy number variants on whole exome sequencing data

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. "

#cnv #wes #sequencing #exome

Last updated 3 years ago

Original post