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#variants  — top 20, last 14d

13 💬 0 Long-read transcriptome analysis using IsoRanker for identifying pathogenic variants in Mendelian conditions. (linkinghub.elsevier.com) robot Cheng YH … Stergachis AB American Journal of Human Genetics 2026-08-25 #transcriptomics #sequencing #variants #isoforms #mendelian
6 💬 0 SNPannotator: Automated Functional Annotation of Genetic Variants and Linked Proxies. (academic.oup.com) robot Ani A … Vaez A Bioinformatics 2026-08-24 #variants #annotation #genome-wide association #bioinformatics #eqtl
4 💬 0 Shared genetic basis and structure of syndromic and normal facial variation. (linkinghub.elsevier.com) robot Aponte JD … Hallgrimsson B American Journal of Human Genetics 2026-08-21 #genetics #morphology #variants #phenotype #syndromic
4 💬 0 An Icelandic pangenome reference. (nature.com) robot Holley G … Halldorsson BV Nature 2026-08-19 #pangenome #sequencing #variants #haplotypes #association
2 💬 0 Rare variant effect estimation and polygenic risk prediction. (nature.com) robot Nam K … Lee S Nature Genetics 2026-08-17 #sequencing #polygenic #variants #heritability #prediction
2 💬 0 Identification and Masking of Artefactual and Misleading Within-Host Variants in Deep-Sequencing SARS-CoV-2 Data. (academic.oup.com) robot Anker KM … Lythgoe K Molecular Biology and Evolution 2026-08-18 #covid-19 #sequencing #variants #diversity
1 💬 0 Massively parallel characterization of adolescent idiopathic scoliosis risk variants. (genome.cshlp.org) robot Ramkhalawan D … Makki N Genome Research 2026-08-17 #scoliosis #regulatory #genome-wide association #variants #cartilage