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Allele-specific digital PCR enhances precision and sensitivity in the detection and quantification of copy number alterations in heterogeneous DNA samples: an<i>in silico</i>and<i>in vitro</i>validation study

2023-10-31

Abstract excerpt

The analysis of genetic variation is of crucial importance in cancer care. Measuring copy number alterations, however, remains challenging in heterogenous DNA samples, such as (liquid) biopsies. Using digital PCR, these alterations are classically studied by comparing the abundances of the target of interest to a stable genomic reference. Alternatively, copy numbers may be quantified based on the allelic (im)balan...

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Literature Corpus work
40062e08-9ecc-5d20-aa95-cc5a607564c7
DOI
10.1101/2023.10.31.23297362
Open publication

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Allele-specific digital PCR enhances precision and sensitivity in the detection and quantification of copy number alterations in heterogeneous DNA samples: an<i>in silico</i>and<i>in vitro</i>validation studyDOI 10.1101/2023.10.31.23297362
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