Transcriptomic signatures across human tissues identify functional rare genetic variation
Por um escritor misterioso
Last updated 18 maio 2024
Uncovering the impacts of alternative splicing on the proteome with current omics techniques - Reixachs‐Solé - 2022 - WIREs RNA - Wiley Online Library
Functional genomics and the future of iPSCs in disease modeling - ScienceDirect
Aberrant splicing prediction across human tissues
Single-cell transcriptomic profiling reveals distinct mechanical responses between normal and diseased tendon progenitor cells - ScienceDirect
The functional impact of rare variation across the regulatory cascade - ScienceDirect
Identifying disease-critical cell types and cellular processes by integrating single-cell RNA-sequencing and human genetics
JPM, Free Full-Text
Clinical implementation of RNA sequencing for Mendelian disease diagnostics, Genome Medicine
Innovative spatial analysis approaches implemented in stLearn. a
Frontiers Innovative in Silico Approaches for Characterization of Genes and Proteins
Schematic of the variant filtering steps used to obtain the final
Network analysis reveals rare disease signatures across multiple levels of biological organization
The functional impact of rare variation across the regulatory cascade
The functional impact of rare variation across the regulatory cascade - ScienceDirect
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