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Detection of multiple transcript probes for a signature gene was low and only observed in the liver (12 00) and thyroid (9 00); splicing variants were not detected (Additional file 2: Table S2 and Additional file 3: Table S3).
Our method can jointly model multiple transcript probes and multiple SNP markers in a gene-based concept.
This study used a gene-based partial least squares (PLS) method to correlate the multiple transcript probes and multiple SNP markers.
To our knowledge, our study is the first genome-wide eQTL mapping study that jointly models multiple transcript probes and multiple SNP markers in a gene-based concept.
We applied a gene-based PLS method to correlate the multiple transcript probes for a T-gene and multiple SNPs on an S-gene.
In each data file of a T-gene, the first 2 columns are the T-gene name and sample ID followed by the gene expression data of multiple transcript probes in this T-gene.
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A single "representative" transcript probe set was chosen for genes measured by multiple transcript probe sets on the microarray.
As part of the preprocessing procedure, the data set was subset to a single "representative" transcript probe set per gene, as multi-transcript genes were also measured by multiple transcript probe sets on the microarray.
However, it is well known that a large number of probe sets includes probes which match multiple transcripts and also probes which do not match any transcript [ 84].
We found that the probe sequences on the HG-U133A were sufficient to distinguish multiple transcript intensities for 215 genes (or 141 genes with a minimum probe set size of 3).
Furthermore, if a gene encodes multiple transcript isoforms, the gene could be revealed by plotting the probe signal intensities against the gene structure [28], [29].
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