The Australian Acute Care Genomics program report shows that integrating rapid whole genome sequencing and multiomic analyses informs diagnoses and treatment decisions in a prospective cohort of 290 critically ill infants & children. ZornitzaS GenomeSeb
Primary cultures of fibroblasts from individual A1131048 and two unrelated pediatric control fibroblasts ; Fwd: GAGACAGACCTTGGTCTCAGTAA; Rev: AGCATGCCACCATACTCCTC andWestern blot
For denaturing gels, proteins from fibroblasts were extracted, 30 µg of proteins separated by SDS–PAGE and transferred to PVDF as previously described. Primary antibodies were specific to human NUP214 and human GAPDH and appropriate anti-rabbit horseradish peroxidase-conjugated antibodies , enhanced chemiluminescence reagents and Bio-Rad ChemiDoc were used to capture band intensity.
Data were imported into Perseus for processing where known contaminants were filtered for and all MS2 quantity levels were logtransformed. The A1131048 patient and control groups were filtered for proteins having at least two valid values and a two-sided-test was conducted. A volcano plot was generated using the scatter-plot function with significance set at ±1.5 fold change (log
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