Pavlos Antoniou

The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom

Katharina Schwarze, James Buchanan, Jilles M. Fermont et al. · Genetics in Medicine · 2019 · 248 citations · Full text

Life Sciences, Bioinformatics, Oncology +17

Clinical whole-genome sequencing from routine formalin-fixed, paraffin-embedded specimens: pilot study for the 100,000 Genomes Project

Pauline Robbe, Niko Popitsch, Samantha J.L. Knight et al. · Genetics in Medicine · 2018 · 191 citations · Full text

Life Sciences, Oncology, Pathology +17

KIS SPLICE: de-novo calling alternative splicing events from RNA-seq data

Gustavo AT Sacomoto, Janice Kielbassa, Rayan Chikhi et al. · BMC Bioinformatics · 2012 · 123 citations · Full text

Life Sciences, Bioinformatics, Molecular Biology +17

Bisulfite Conversion of DNA: Performance Comparison of Different Kits and Methylation Quantitation of Epigenetic Biomarkers that Have the Potential to Be Used in Non-Invasive Prenatal Testing

Chrysanthia A. Leontiou, Michael D. Hadjidaniel, Petros Mina et al. · PLoS ONE · 2015 · 97 citations · Full text

Life Sciences, Genetics, Molecular Biology +16

Whole-genome sequencing of chronic lymphocytic leukemia identifies subgroups with distinct biological and clinical features

Pauline Robbe, Kate Ridout, Dimitrios V. Vavoulis et al. · Nature Genetics · 2022 · 78 citations · Full text

Life Sciences, Genetics, Oncology +17