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We developed a database of variations collected from patients with Mendelian disorders, which is automatically populated thanks to an associated exome-sequencing pipeline.
We also illustrate how a small set of variations collected from heterogeneous sources can highlight a new and larger consensus of changes in the network products during this condition.
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The spectra were baseline corrected using an automated algorithm in the OPUS software and are presented in Figure 1A to highlight spot-to-spot spectral variation collected from a single substrate and to demonstrate substrate-to-substrate variation.
Even though the data was gathered from a database containing a 10 year's worth of ICU patients, the data was still only from one ICU, and for the purpose of validation a larger variation (collecting from various ICUs) would have been beneficial.
As many parameters may affect S1P release into the samples after the actual blood collection, standardised sample handling procedures need to be used to obtain reproducible results when comparing both inter-study variation as well as variations between samples collected from different patient groups.
Variations in light collected from the lead tungstate crystals, due to intrinsic differences in crystals/photodetectors, as well as variations with time due to radiation damage for example, need to be taken into account.
The content analysis was performed to observe batch-to-batch variations for samples collected from different regions, as shown in Fig. 4.
The quantitative changes that occurred in individual animals during the course of infection overlapped with variations in samples collected from different animals of the same class (control, S. pneumoniae and C. neoformans, see supporting material, Table S1), precluding the use of metabolite ratios for diagnosis of streptococcal and cryptococcal meningitis.
Copy number variation data was collected from a recently published study, which conducted genome-wide screening of CNVs for epilepsy disorders [3].
Multicentre materials may also contain larger measurement variation than data collected from a single institution.
Levels of genetic variation in samples collected from 2004 2011 were characterized for haplotypic richness and haplotype diversity (Table S3).
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com