Skip to main content

Table 1 Summary of samples

From: Detecting clinically actionable variants in the 3′ exons of PMS2 via a reflex workflow based on equivalent hybrid capture of the gene and its pseudogene

Assay

Samples

LR-PCR + NGS

718 patient samples

155 cell-line samples

Hybrid capture + NGS

144 patient samples

155 cell-line samples

3 known positives

MLPA

4 patient samples

4 cell-line samples

RT-PCR + NGS

33 samples

Back to article page

BMC Medical Genetics

ISSN: 1471-2350

Contact us