Precision and recall in rare disease genomics: benchmarking the IMGGE whole genome sequencing pipeline

Precision and recall in rare disease genomics: benchmarking the IMGGE whole genome sequencing pipeline

Sara Stankovic1*, Nikola Jocic1, Djordje Pavlovic1, Marina Parezanovic1, Nina Stevanovic1, Kristina Grujic1, Jovana Komazec1, Kristel Klaassen1, Anita Skakic1, Marina Andjelkovic1, Milena Ugrin1, Vesna Spasovski1, Steven Laurie2 and Maja Stojiljkovic1

1Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Serbia

2Centro Nacional de Análisis Genómico, Barcelona, Spain

Assessment of coumarin derivatives potential as cyclooxygenase-2 inhibitors

Assessment of coumarin derivatives potential as cyclooxygenase-2 inhibitors

Vladimir Vlatković1*, Katarzyna Wicha-Komsta2, Tomasz Kocki2, Łukasz Komsta3, Saša Lazović4 and Darija Obradović4

1Institute of Physics Belgrade, National Institute of the Republic of Serbia, University of Belgrade

2Institute of Medical Sciences, Faculty of Medicine, The John Paul II Catholic University of Lublin, Lublin, Poland

3Faculty of Pharmacy, Medical University of Lublin, Lublin, Poland

4Institute of Physics Belgrade, National Institute of the Republic of Serbia, University of Belgrade, Belgrade, Serbia

Analysis of total transcriptome from brain tissue of progressive multiple sclerosis patients identifies ferroptosis-related genes relevant for distinction of inactive from chronic active white mater lesions

Analysis of total transcriptome from brain tissue of progressive multiple sclerosis patients identifies ferroptosis-related genes relevant for distinction of inactive from chronic active white mater lesions

Milan Stefanović, Ivan Jovanović, Nađa Trklja*, Jovana Kuveljić, Aleksandra Stanković and Maja Živković

Vinča Institute of Nuclear Sciences, National Institute of the Republic of Serbia, University of Belgrade, Department of Radiobiology and Molecular Genetics

Implementation and clinical utility of the GATK gCNV pipeline for rare disease diagnostics using whole exome sequencing

Implementation and clinical utility of the GATK gCNV pipeline for rare disease diagnostics using whole exome sequencing

Djordje Pavlovic1*, Anita Skakic1, Kristel Klaassen1, Irena Marjanovic1, Marina Parezanovic1, Nina Stevanovic1, Goran Cuturilo2, Marija Brankovic2, Brankica Bosankic2, Jelena Ruml Stojanovic2, Bojan Ristivojevic1, Branka Zukic1, Maja Stojiljkovic1 and Marina Andjelkovic1

1Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Serbia

2University Children's Hospital, Belgrade, Serbia