[HTML][HTML] Comprehensive analysis of tissue-wide gene expression and phenotype data reveals tissues affected in rare genetic disorders
Linking putatively pathogenic variants to the tissues they affect is necessary for determining
the correct diagnostic workup and therapeutic regime in undiagnosed patients. Here, we …
the correct diagnostic workup and therapeutic regime in undiagnosed patients. Here, we …
[HTML][HTML] Tracing the failing heart: dual genetic fate mapping for target identification
In a recent study published in Nature Genetics, 1 Han and colleagues employed a dual
genetic lineage tracing approach in combination with a model of heart failure (HF) to identify …
genetic lineage tracing approach in combination with a model of heart failure (HF) to identify …
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts
It is estimated that 350 million individuals worldwide suffer from rare diseases, which are
predominantly caused by mutation in a single gene. The current molecular diagnostic rate is …
predominantly caused by mutation in a single gene. The current molecular diagnostic rate is …
[HTML][HTML] Concordance of deregulated mechanisms unveiled in underpowered experiments: PTBP1 knockdown case study
Background Genome-wide transcriptome profiling generated by microarray and RNA-Seq
often provides deregulated genes or pathways applicable only to larger cohort. On the other …
often provides deregulated genes or pathways applicable only to larger cohort. On the other …
Thinking Beyond Disease Silos: Dysregulated Genes Common in Tuberculosis and Lung Cancer as Identified by Systems Biology and Machine Learning
S Dasgupta - OMICS: A Journal of Integrative Biology, 2024 - liebertpub.com
The traditional way of thinking about human diseases across clinical and narrow phenomics
silos often masks the underlying shared molecular substrates across human diseases. One …
silos often masks the underlying shared molecular substrates across human diseases. One …
Genomics and Clinical Relevance
T Hudson - Science, 2011 - science.org
Genomics and Clinical Relevance | Science news careers commentary Journals Science
Science brought to you byGoogle Indexer Log in science science advances science immunology …
Science brought to you byGoogle Indexer Log in science science advances science immunology …
[HTML][HTML] Parallelized multidimensional analytic framework applied to mammary epithelial cells uncovers regulatory principles in EMT
A proper understanding of disease etiology will require longitudinal systems-scale
reconstruction of the multitiered architecture of eukaryotic signaling. Here we combine state …
reconstruction of the multitiered architecture of eukaryotic signaling. Here we combine state …
[HTML][HTML] Systems level analysis and identification of pathways and networks associated with liver fibrosis
Toxic liver injury causes necrosis and fibrosis, which may lead to cirrhosis and liver failure.
Despite recent progress in understanding the mechanism of liver fibrosis, our knowledge of …
Despite recent progress in understanding the mechanism of liver fibrosis, our knowledge of …
Addressing reproducibility in single-laboratory phenotyping experiments
To demonstrate metabolic pathway analysis and multiomic integration, we describe
representative sample sets in the Supplementary Note, including metabolic pathway …
representative sample sets in the Supplementary Note, including metabolic pathway …
Mapping signalling perturbations in myocardial fibrosis via the integrative phosphoproteomic profiling of tissue from diverse sources
U Kuzmanov, EY Wang, R Vanderlaan… - Nature biomedical …, 2020 - nature.com
Study of the molecular basis of myocardial fibrosis is hampered by limited access to tissues
from human patients and by confounding variables associated with sample accessibility …
from human patients and by confounding variables associated with sample accessibility …