title: A hybrid approach for de novo human genome sequence assembly and phasing.
abstract: Despite tremendous progress in genome sequencing, the basic goal of producing a phased (haplotype-resolved) genome sequence with end-to-end contiguity for each chromosome at reasonable cost and effort is still unrealized. In this study, we describe an approach to performing de novo genome assembly and experimental phasing by integrating the data from Illumina short-read sequencing, 10X Genomics linked-read sequencing, and BioNano Genomics genome mapping to yield a high-quality, phased, de novo assembled human genome.
authors.affiliation: Cardiovascular Research Institute, University of California, San Francisco, San Francisco, California, USA.
authors.forename: Yulia
authors.initials: Y
authors.lastname: Mostovoy
authors.affiliation: Cardiovascular Research Institute, University of California, San Francisco, San Francisco, California, USA.
authors.forename: Michal
authors.initials: M
authors.lastname: Levy-Sakin
authors.affiliation: Cardiovascular Research Institute, University of California, San Francisco, San Francisco, California, USA.
authors.forename: Jessica
authors.initials: J
authors.lastname: Lam
authors.affiliation: BioNano Genomics, Inc., San Diego, California, USA.
authors.forename: Ernest T
authors.initials: ET
authors.lastname: Lam
authors.affiliation: BioNano Genomics, Inc., San Diego, California, USA.
authors.forename: Alex R
authors.initials: AR
authors.lastname: Hastie
authors.affiliation: 10X Genomics, Inc., Pleasanton, California, USA.
authors.forename: Patrick
authors.initials: P
authors.lastname: Marks
authors.affiliation: BioNano Genomics, Inc., San Diego, California, USA.
authors.forename: Joyce
authors.initials: J
authors.lastname: Lee
authors.affiliation: Cardiovascular Research Institute, University of California, San Francisco, San Francisco, California, USA.
authors.forename: Catherine
authors.initials: C
authors.lastname: Chu
authors.affiliation: Cardiovascular Research Institute, University of California, San Francisco, San Francisco, California, USA.
authors.forename: Chin
authors.initials: C
authors.lastname: Lin
authors.affiliation: BioNano Genomics, Inc., San Diego, California, USA.
authors.forename: Željko
authors.initials: Ž
authors.lastname: Džakula
authors.affiliation: BioNano Genomics, Inc., San Diego, California, USA.
authors.forename: Han
authors.initials: H
authors.lastname: Cao
authors.affiliation: Department of Molecular and Cell Biology, University of Cape Town, Cape Town, South Africa.
authors.forename: Stephen A
authors.initials: SA
authors.lastname: Schlebusch
authors.affiliation: 10X Genomics, Inc., Pleasanton, California, USA.
authors.forename: Kristina
authors.initials: K
authors.lastname: Giorda
authors.affiliation: 10X Genomics, Inc., Pleasanton, California, USA.
authors.forename: Michael
authors.initials: M
authors.lastname: Schnall-Levin
authors.affiliation: Institute for Human Genetics, University of California, San Francisco, San Francisco, California, USA.
authors.forename: Jeffrey D
authors.initials: JD
authors.lastname: Wall
authors.affiliation: Cardiovascular Research Institute, University of California, San Francisco, San Francisco, California, USA.|Institute for Human Genetics, University of California, San Francisco, San Francisco, California, USA.|Department of Dermatology, University of California, San Francisco, San Francisco, California, USA.
authors.forename: Pui-Yan
authors.initials: PY
authors.lastname: Kwok
mesh_terms: D002874:Chromosome Mapping / Q000379:methods*; D015894:Genome, Human; D023281:Genomics / Q000379:methods*; D006239:Haplotypes / Q000235:genetics*; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods*; D006801:Humans