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To determine the sensitivity and precision of our DDiMAP approach, we used the Sanger-level IGH private sequence information from a highly mutated FL case as a biologically relevant mutation pattern in a simulation study incorporating both ongoing mutation from the initial sequence and simulated Illumina HiSeq error patterns in 100 base pair single-ended reads [ 47].
The skewed mutation pattern in NBS1 deficient patients has not been observed in any mouse or human disease model.
Analysis of the altered mutation pattern in mice deficient in MSH2, a mismatch repair (MMR) protein, led to the proposal that SHM is a two step process.
As the G/C mutation pattern in ATLD patients is largely normal, the role of NBS1 in SHM is probably uncoupled from Mre11.
Previous studies of the neutral mutation pattern in Drosophila using dead-on-arrival non-LTR retrotransposable elements in euchromatic regions suggested that the neutral mutation rate of G's and C's is 50% higher than A's and T's [18].
To determine if viral genetic differences contribute to the difference between response and relapse, we examined the inter-patient genetic diversity and mutation pattern in the full open reading frame HCV genotype 1a consensus sequences.
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The interplay between transcription and mutational processes can lead to particular mutation patterns in transcribed regions of the genome.
While these pioneering studies have established the first architecture of somatic mutation patterns in pan-cancers, a detailed and deep exploration of mutational profiles within and between cancer types has not yet been performed.
The mutation patterns in LUAD in Asians might be distinct from those in LUAD in whites.
We described mutation patterns in known genetic drivers of lung adenocarcinoma and profiled genome-wide recurrently mutated loci.
With the development of the next-generation high throughput deep sequencing technology, scientists now are able to identify somatic mutation patterns in a certain tumor tissue, like HCC.
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