Recommended articles, posters and papers
Re-evaluation and re-analysis of 152 research exomes five years after the initial report reveals clinically relevant changes in 18%
by Tobias Bartolomaeus et al. (2023)
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by Jan Henkel et al. (2023)
European Journal of Human Genetics
Impact of reference materials for analytical performance evaluation of liquid biopsy NGS assays
by Ariane Hallermayr et al. (2023)
Poster
Impact of reference material on limit of detection in analytical performance evaluation of liquid biopsy NGS assays
by Björn Nowack et al. (2023)
Poster
Towards analyzing the reclassification dynamics of ClinVar variants
by Andreas Ruscheinski et al. (2023)
bioRxiv
Highly sensitive liquid biopsy Duplex sequencing complements tissue biopsy to enhance detection of clinically relevant genetic variants
by Ariane Hallermayr et al. (2022)
Frontiers in Oncology
Scientific evaluation of negative exome sequencing followed by systematic scoring of candidate genes to decipher the genetics of neurodevelopmental disorders
by Benjamin Büttner et al. (2019)
bioRxiv