ena-STUDY-AMSTERDAM UMC-11-08-2020-13:02:46:880-2368
De-novo assembly and SV analysis of a 115-year-old Dutch cognitively healthy woman
The human genome harbours numerous structural variants (SVs) which, due to their repetitive nature, are currently underexplored in short-read whole genome sequencing approaches. Using Single Molecule, Real-Time (SMRT) long-read sequencing technology in combination with FALCON-Unzip, we generated a de novo assembly of the diploid genome of a 115-year-old Dutch cognitively healthy woman. We combined this assembly with two previously published haploid assemblies (CHM1 and CHM13) and the GRCh38 reference genome to create a compendium of SVs that occur across these five independent human haplotypes using the graph-based multi-genome aligner REVEAL.
The human genome harbours numerous structural variants (SVs) which, due to their repetitive nature, are currently underexplored in short-read whole genome sequencing approaches. Using Single Molecule, Real-Time (SMRT) long-read sequencing technology in combination with FALCON-Unzip, we generated a de novo assembly of the diploid genome of a 115-year-old Dutch cognitively healthy woman. We combined this assembly with two previously published haploid assemblies (CHM1 and CHM13) and the GRCh38 reference genome to create a compendium of SVs that occur across these five independent human haplotypes using the graph-based multi-genome aligner REVEAL.