10.6084/m9.figshare.7227230.v1 Fritz Sedlazeck Fritz Sedlazeck ASHG 2018: Illuminating the Dark Genome: evaluation of technologies to assess medically relevant dark spots figshare 2018 SVs Phasing NA12878 10xgenomics Pacbio Oxford Nanopore Giab SV calling SNP calling Bioinformatics Software Bioinformatics Computational Biology Computational Biology 2018-10-18 18:22:54 Journal contribution https://figshare.com/articles/journal_contribution/ASHG_2018_Illuminating_the_Dark_Genome_evaluation_of_technologies_to_assess_medically_relevant_dark_spots/7227230 Talk about how good or bad are the different technologies to decipher difficult regions important for medical diagnosis.