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Mechanistic Modelling of Recessive Disease through Allelic Integration of Variant Effects

by admin | Oct 16, 2025 | Publications

Unpublished preprint Çubuk H, Plech M, Aslanzadeh V, et al (2025) bioRxiv 2025.08.15.670494. https://doi.org/10.1101/2025.08.15.670494

PU.1-driven enrichment enables microglia profiling from frozen brain tissue using the high-throughput Smart-seq3xpress method

by admin | Oct 16, 2025 | Publications

Unpublished preprint Dostalova D, Abaffy P, Rohlova E, et al (2025) bioRxiv 2025.08.11.669607. https://doi.org/10.1101/2025.08.11.669607

De novo heterozygous variants in EHMT2 genocopy Kleefstra syndrome via loss of G9a methyltransferase activity

by admin | Oct 16, 2025 | Publications

Unpublished preprint Hnízda A, Martinez-Delgado B, Sanchez-Ponce D, et al (2025) bioRxiv 2025.09.25.678439. https://doi.org/10.1101/2025.09.25.678439

Preparation and characterization of flow reactors for the validation of biological drugs

by admin | Oct 16, 2025 | Publications

Diploma thesis Kordík J (2025) Univerzita Karlova, Přírodovědecká fakulta Katedra biochemie, 2025.

Single-nucleus transcriptome analysis provides new insights into B chromosome elimination in sorghum

by admin | Oct 7, 2025 | News

B chromosomes (Bs) are supernumerary entities found in many plant species, with some exhibiting tissue-specific elimination. In Sorghum purpureosericeum, extensive level of the B chromosome elimination occurs during embryogenesis. It progresses quickly and affects...
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Recent Posts

  • Single-Molecule Real-Time Sequencing for MUC1 Variable Number of Tandem Repeat Variation to Improve Autosomal Dominant Tubulointerstitial Kidney Disease Diagnosis
  • Recurrent Single-Nucleotide Insertions in the Mitochondrial Second Light-Strand Promoter Cause Tubulointerstitial Kidney Disease
  • A role for EHMT2 in a novel autosomal recessive neurodevelopmental syndrome? A case report
  • paRDal: Bioinformatics Framework for a Parallel RNA and DNA NGS Analysis in Hereditary Cancer Diagnostics
  • Tri‐Parametric Assessment of α‐Galactosidase A Activity, lysoGb3 and X‐Inactivation Aids Genotype‐Phenotype Categorization of Fabry Disease Female Patients

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The MULTIOMICS_CZ project is supported by programme Johannes Amos Comenius, Ministry of Education, Youth and Sports of the Czech Republic,
ID Project CZ.02.01.01/00/23_020/0008540 – Co-funded by the European Union.

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