Sort   by:  
 Page size 
ProteomicsIntegrated multi-omics for rapid rare disease diagnosis on a national scale
The Australian Acute Care Genomics program provides ultra-rapid diagnostic testing to critically ill infants and children with suspected genetic conditions. Over two years, we performed whole genome sequencing (WGS) in 290 families, with average time to result of 2.9 days, and diagnostic yield of 47...
ORGANISM(S): Homo sapiens (Human) 
2023-10-24 | PXD042001 | Pride
Proteomics Genomics Intensive care Transcriptomics 
UnknownChronic exposure to TGFβ1 regulates myeloid cell inflammatory response in an IRF7-dependent manner.
Not available
S-EPMC4282639 | biostudies-literature
UnknownDevelopment, explanation, and presentation of the Physical Literacy Interventions Reporting Template (PLIRT).
Not available
S-EPMC9938627 | biostudies-literature
GenomicsAutozygosity pilot Born in Bradford
The offspring of first cousin marriages have ~6% of their genome autozygous, i.e. homozygous identical by descent, or even more if there was further consanguinity in their ancestry. In the UK there are large populations with very high first cousin marriage rates of 20-50%. Sequencing the exomes of...
EGAS00001000462 | EGA
GenomicsEGAS00001000462-sc-20170511 - samples
The offspring of first cousin marriages have ~6% of their genome autozygous, i.e. homozygous identical by descent, or even more if there was further consanguinity in their ancestry. In the UK there are large populations with very high first cousin marriage rates of 20-50%. Sequencing the exomes of...
EGAD00001003329 | EGA
GenomicsEGAS00001000462-sc-20141120 - samples
The offspring of first cousin marriages have ~6% of their genome autozygous, i.e. homozygous identical by descent, or even more if there was further consanguinity in their ancestry. In the UK there are large populations with very high first cousin marriage rates of 20-50%. Sequencing the exomes of...
EGAD00001001079 | EGA
UnknownEffects of Pitavastatin on Coronary Artery Disease and Inflammatory Biomarkers in HIV: Mechanistic Substudy of the REPRIEVE Randomized Clinical Trial.
Not available
S-EPMC10882511 | biostudies-literature
UnknownPartial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.
Not available
S-EPMC6925349 | biostudies-literature
UnknownSearch for supersymmetry in pp collisions at [Formula: see text] TeV in events with a single lepton, jets, and missing transverse momentum.
Not available
S-EPMC4370766 | biostudies-literature
UnknownA prognostic model for use before elective surgery to estimate the risk of postoperative pulmonary complications (GSU-Pulmonary Score): a development and validation study in three international cohorts.
Not available
S-EPMC12056793 | biostudies-literature
Sort   by:  
 Page size