Fully phased sequence of a diploid human genome determined de novo from the DNA of a single individual

July 2020

Ilya Soifer , Nicole L. Fong, Nelda Yi, Andrea T. Ireland, Irene Lam, Matthew Sooknah, Jonathan S. Paw, Paul Peluso, Gregory T. Concepcion, David Rank, Alex R. Hastie, 5 Vladimir Jojic, J. Graham Ruby, David Botstein, Margaret A. Roy
Researchers at Calico Life Sciences in a collaboration with the platform manufacturers PacBio (sequencing) and BioNano (optical mapping) produced a fully phased de novo assembly of a human genome. 10X Genomics linked-read technology was also used, and a new method is presented that uses Illumina sequencing of flow cytometry-sorted metaphase chmormosomes.
>20KB High-Pass was used on the BluePippin for the construction of SMRTbell library for PacBio RSII sequencing.

Author Affiliations:
Calico Life Sciences LLC, South San Francisco,CA
Pacific Biosciences, Menlo Park, CA
Bionano Genomics, San Diego, CA

G3:Genes/Genom/Genetics (Early online)
DOI: 10.1534/g3.119.400995

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