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TranscriptomicsIntra- and inter-individual genetic differences in gene expression
Each expressed gene was tested for differential expression in three mouse tissues (Brain, Kidney, Liver) in a direct comparison of SJL/J vs. C57BL/6J Keywords: direct comparison, multiple tissues Whole RNA from a pool of 5 SJL/J mice was compared to a pool of RNA from C57BL/6J mice with three techni...
ORGANISM(S): Mus musculus 
2010-05-16 | E-GEOD-8358 | biostudies-arrayexpress
UnknownAutomated patch clamp data improve variant classification and penetrance stratification for SCN5A-Brugada syndrome.
Not available
S-EPMC12678899 | biostudies-literature
UnknownMultisite Validation of a Functional Assay to Adjudicate SCN5A Brugada Syndrome-Associated Variants.
Not available
S-EPMC11335442 | biostudies-literature
UnknownMulti-site validation of a functional assay to adjudicate SCN5A Brugada Syndrome-associated variants.
Not available
S-EPMC10775332 | biostudies-literature
TranscriptomicsA Myc transcriptional program that is independent of EMT drives a poor prognosis tumor-propagating phenotype in HER2+ breast cancer
The HER2 (ERBB2) and MYC genes are commonly amplified genes in breast cancer, yet little is known about their molecular and clinical interaction. Using a novel chimeric mammary transgenic approach and in vitro models, we demonstrate markedly increased self renewal and tumour propagating capability o...
ORGANISM(S): Homo sapiens 
2013-09-24 | E-GEOD-43730 | biostudies-arrayexpress
UnknownMultiplexed Assays of Variant Effect and Automated Patch Clamping Improve <i>KCNH2</i>-LQTS Variant Classification and Cardiac Event Risk Stratification.
Not available
S-EPMC11611689 | biostudies-literature
UnknownMultiplexed Assays of Variant Effect and Automated Patch-clamping Improve KCNH2-LQTS Variant Classification and Cardiac Event Risk Stratification.
Not available
S-EPMC10871451 | biostudies-literature
Genomics5b85420b-44cf-4d0a-9fa8-4930e698bc25 - samples
Deep WGS (germline and 2-5 tumour regions) was performed on 20 patients: 13 lung adenocarcinoma, 5 squamous cell carcinoma, 2 small-cell lung cancers. A total of 68 BAM files are provided, where tumours were sequenced to 60x or 150x depth.
EGAD00001005287 | EGA
GenomicsDeep multi-region whole-genome sequencing reveals heterogeneity and gene-by-environment interactions in treatment-naive, metastatic lung cancer
Our understanding of genomic heterogeneity in lung cancer is largely based on the analysis of early-stage surgical specimens. Here we used endoscopic sampling of paired primary and intrathoracic metastatic tumors from 11 lung cancer patients to map genomic heterogeneity inoperable lung cancer with d...
EGAS00001003830 | EGA
GenomicsGarvan Institute of Medical Research
Data Access Committee EGAC00001001300
EGAC00001001300 | EGA
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