Genome Biology Unit, European Molecular Biology Laboratory (EMBL), Heidelberg, Germany Claudia Calabrese, Serap Erkek, Moritz Gerstung, Santiago Gonzalez, Nina Habermann, Wolfgang Huber, Lara Jerman, Jan O. Korbel, Esa Pitkänen, Benjamin Raeder, Tobias Rausch, Vasilisa A. Rudneva, Oliver Stegle...
410,123 somatic multinucleotide variants, 2,418,247 somatic indels, 288,416 somatic SVs, 19,166 somatic retrotransposition events and 8,185 de novo mitochondrial DNA mutations (Supplementary Table1). There was considerable heterogeneity in the burden of somatic mutations across patients and tumour t...
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West of Scotland Pancreatic Unit, Glasgow Royal Infirmary, Glasgow, UK Andrew V. Biankin & Nigel B. Jamieson Center for Digital Health, Berlin Institute of Health and Charitè - Universitätsmedizin Berlin, Berlin, Germany Matthias Bieg Heidelberg Center for Personalized Oncology (DKFZ-HIPO), Ger...
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A small proportion of TR variations were in strong LD (r ≥ 0.7) with each type of bi-allelic variant: 31.3% with SNPs, 15.0% with Indels, and 26.4% with PAVs. More than a third of TR variations were weakly correlated (Pearson’s r < 0.3, or not statistically significant)...
SyRI (https://github.com/schneebergerlab/syri) was used to identify translocation regions on the basis of the presence of non-collinear alignment blocks on both sides. We used the same method as Sun et al.80 to identify genes with large structure variations, which mapped gene sequence (...