TY - JOUR T1 - Selective single molecule sequencing and assembly of a human Y chromosome of African origin JF - bioRxiv DO - 10.1101/342667 SP - 342667 AU - Lukas F.K. Kuderna AU - Esther Lizano AU - Eva Julià AU - Jessica Gomez-Garrido AU - Aitor Serres-Armero AU - Martin Kuhlwilm AU - Regina Antoni Alandes AU - Marina Alvarez-Estape AU - Tyler Alioto AU - Marta Gut AU - Ivo Gut AU - Mikkel Heide Schierup AU - Oscar Fornas AU - Tomas Marques-Bonet Y1 - 2018/01/01 UR - http://biorxiv.org/content/early/2018/06/13/342667.abstract N2 - Mammalian Y chromosomes are often neglected from genomic analysis. Due to their inherent assembly difficulties, high repeat content, and large ampliconic regions1, only a handful of species have their Y chromosome properly characterized. To date, just a single human reference quality Y chromosome, of European ancestry, is available due to a lack of accessible methodology2–5. To facilitate the assembly of such complicated genomic territory, we developed a novel strategy to sequence native, unamplified flow sorted DNA on a MinION nanopore sequencing device. Our approach yields a highly continuous and complete assembly of the first human Y chromosome of African origin. It constitutes a significant improvement over comparable previous methods, increasing continuity by more than 800%6, thus allowing a chromosome scale analysis of human Y chromosomes. Sequencing native DNA also allows to take advantage of the nanopore signal data to detect epigenetic modifications in situ7. This approach is in theory generalizable to any species simplifying the assembly of extremely large and repetitive genomes. ER -