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.