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Finally, we thank Karina Greve and the IKMB NGS lab for excellent technical support

The libraries were sequenced using the Illumina NextSeq 200 instrument in a paired-end 2 61 cycles set-up to a depth of 2050 million reads per sample

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Clinical and molecular characterization of classical-like Ehlers-Danlos syndrome due to a novel TNXB variant

Tubes containing 26, 8.75, 2.9, 0.97, 0.324 and 0.108 ng of a reference DNA (human genomic DNA from buffy coat, cat # 11691112001 from Sigma-Aldrich) were included in each PCR run so that the quantity of targeted templates in each research sample was determined relative to the reference DNA sample by the standard curve method