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GenomicGermline De Novo Mutations with Parent of Origin in WGS Trios

This study is part of the 'First 1,000 Days of Life and Beyond' study at the Inova Translational Medicine Institute. Whole-genome sequencing data from 1,291 parent-offspring trios was used to study the properties of clustered de novo mutations. The maternal clusters were fo...

phs001522 | dbGaP
GenomicWhole Genome Study for De Novo Mutation Rates

Germline mutations are the source of evolution and contribute substantially to many health-related processes. In this study, we use whole genome deep sequencing data from parents-offspring trios to examine the de novo point mutations (DNMs) in the offspring.

We studied correlation between ...

phs001055 | dbGaP
TranscriptomicsGenome-scale methylation assessment did not identify prognostic biomarkers in oral tongue carcinomas
DNA methylation profiling of heterogeneous head and neck squamous cell carcinoma (HNSCC) cohorts has been reported to predict patient outcome. We investigated if a prognostic DNA methylation profile could be found in tumour tissue from a single uniform subsite, the oral tongue. The methylation statu...
ORGANISM(S): Homo sapiens 
2016-07-18 | E-GEOD-79556 | biostudies-arrayexpress
UnknownMET amplification identifies a small and aggressive subgroup of esophagogastric adenocarcinoma with evidence of responsiveness to crizotinib.
Not available
S-EPMC3255989 | biostudies-literature
UnknownClinical Experience With Crizotinib in Patients With Advanced ALK-Rearranged Non-Small-Cell Lung Cancer and Brain Metastases.
Not available
S-EPMC4451171 | biostudies-literature
UnknownNeurological associations of COVID-19.
Not available
S-EPMC7332267 | biostudies-literature
UnknownHIV, antiretroviral treatment, hypertension, and stroke in Malawian adults: A case-control study.
Not available
S-EPMC4776088 | biostudies-literature
TranscriptomicsPropagation of Human corneal Endothelial Cells M-bM-^@M-^S A Novel Dual Media Approach
Human corneal endothelial cells (CECs) are not able to proliferate or regenerate within the eye. However, limited in vitro expansion of primary human CECs has been demonstrated by several laboratories, including ours. Due to the nature of these primary cells, various culture conditions supporting th...
ORGANISM(S): Homo sapiens 
2013-08-28 | E-GEOD-50212 | biostudies-arrayexpress
UnknownA mutation in the PRKAR1B gene drives pathological mechanisms of neurodegeneration across species.
Not available
S-EPMC11531844 | biostudies-literature
GenomicsOncogene-Mediated Alterations in Chromatin Conformation
Emerging evidence suggests that chromatin adopts a non-random three-dimensional (3D) topology and that the organization of genes into structural hubs and domains affects their transcriptional status. How chromatin conformation changes in diseases such as cancer is poorly understood. Moreover, how on...
ORGANISM(S): Homo sapiens 
2012-05-23 | E-GEOD-37752 | biostudies-arrayexpress
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