Case studies background image

Use cases, posters and white papers

Learn how 42Genetics makes a difference.

Variant calling quality enhancement within a large breeding population

Van Oeveren J., Janssen A., van Ham R. Keygene N.V., Wagenigen, the Netherlands.



Validation of an ultra-fast CNV calling tool for Next Generation Sequencing data using MLPA-verified copy number alterations

Tolhuis B., Karten J. Validation of an ultra-fast CNV calling tool for Next Generation Sequencing data using MLPA-verified copy number alterations. bioRxiv doi: 10.1101/340505 (2018)

https://www.biorxiv.org/content/early/2018/06/06/340505.article-info


A characterization of postzygotic mutations identified in monozygotic twins

Ouwens K.G., Jansen R., Tolhuis B., Slagboom P.E., Penninx B.W.J.H., Boomsma D.I. A characterization of postzygotic mutations identified in monozygotic twins. Human Mutations doi: 10.1002/humu.23586 (2018)

https://onlinelibrary.wiley.com/doi/full/10.1002/humu.23586