Transcriptomic signatures across human tissues identify functional rare genetic variation
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Last updated 09 abril 2025


Biomolecules, Free Full-Text

Frontiers Transcriptomic analysis of paired healthy human skeletal muscles to identify modulators of disease severity in DMD

Frontiers Rare diseases of epigenetic origin: Challenges and opportunities

IJMS, Free Full-Text

Research

Transcriptomic signatures across human tissues identify functional rare genetic variation

Genetic basis of mitochondrial diseases - Gusic - 2021 - FEBS Letters - Wiley Online Library

Frontiers Isoform Age - Splice Isoform Profiling Using Long-Read Technologies

Current knowledge on genetic variants shaping placental transcriptome and their link to gestational and postnatal health - ScienceDirect

Spatial Transcriptomics: Emerging Technologies in Tissue Gene Expression Profiling

The role of single-cell genomics in human genetics

Broad transcriptomic dysregulation occurs across the cerebral cortex in ASD

A guide for the diagnosis of rare and undiagnosed disease: beyond the exome, Genome Medicine

Fine mapping spatiotemporal mechanisms of genetic variants underlying cardiac traits and disease
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