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The ligase detection reaction (LDR) is a highly specific genotyping method for single nucleotide variations.
How to cite this article: Yang, L. et al. Targeted and genome-wide sequencing reveal single nucleotide variations impacting specificity of Cas9 in human stem cells.
Single nucleotide variations in tRNA sequences can modulate codon assignments by altering codon-anticodon pairing or tRNA charging.
Diagnosis of dystrophinopathies needs to combine several techniques for detecting copy number variations (CNVs; two-thirds of mutations) and single nucleotide variations (SNVs).
somatic single nucleotide variations.
The genomic changes vary from large chromosomal gain or loss to single nucleotide variations or mutations.
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We identified 1,683,572 and 820,179 heterozygous single-nucleotide variations in the BP and PM genomes, respectively.
Heterozygous single-nucleotide variations were detected, but no significant homologous mutations were found.
Inflamed tissue showed increased levels of single-nucleotide variations, with an RNA-editing signature, which were even higher in the tumor samples.
PMS2 NGS analysis of the eight positive controls identified single-nucleotide variations not detected with targeted referent methods.
Single-nucleotide variations (SNVs) exhibited a pattern of localized hypermutation called kataegis in 50% of the tumors.
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