title: Building the sequence map of the human pan-genome.
abstract: Here we integrate the de novo assembly of an Asian and an African genome with the NCBI reference human genome, as a step toward constructing the human pan-genome. We identified approximately 5 Mb of novel sequences not present in the reference genome in each of these assemblies. Most novel sequences are individual or population specific, as revealed by their comparison to all available human DNA sequence and by PCR validation using the human genome diversity cell line panel. We found novel sequences present in patterns consistent with known human migration paths. Cross-species conservation analysis of predicted genes indicated that the novel sequences contain potentially functional coding regions. We estimate that a complete human pan-genome would contain approximately 19-40 Mb of novel sequence not present in the extant reference genome. The extensive amount of novel sequence contributing to the genetic variation of the pan-genome indicates the importance of using complete genome sequencing and de novo assembly.
authors.affiliation: BGI-Shenzhen, Shenzhen 518083, China.
authors.forename: Ruiqiang
authors.initials: R
authors.lastname: Li
authors.forename: Yingrui
authors.initials: Y
authors.lastname: Li
authors.forename: Hancheng
authors.initials: H
authors.lastname: Zheng
authors.forename: Ruibang
authors.initials: R
authors.lastname: Luo
authors.forename: Hongmei
authors.initials: H
authors.lastname: Zhu
authors.forename: Qibin
authors.initials: Q
authors.lastname: Li
authors.forename: Wubin
authors.initials: W
authors.lastname: Qian
authors.forename: Yuanyuan
authors.initials: Y
authors.lastname: Ren
authors.forename: Geng
authors.initials: G
authors.lastname: Tian
authors.forename: Jinxiang
authors.initials: J
authors.lastname: Li
authors.forename: Guangyu
authors.initials: G
authors.lastname: Zhou
authors.forename: Xuan
authors.initials: X
authors.lastname: Zhu
authors.forename: Honglong
authors.initials: H
authors.lastname: Wu
authors.forename: Junjie
authors.initials: J
authors.lastname: Qin
authors.forename: Xin
authors.initials: X
authors.lastname: Jin
authors.forename: Dongfang
authors.initials: D
authors.lastname: Li
authors.forename: Hongzhi
authors.initials: H
authors.lastname: Cao
authors.forename: Xueda
authors.initials: X
authors.lastname: Hu
authors.forename: Hélène
authors.initials: H
authors.lastname: Blanche
authors.forename: Howard
authors.initials: H
authors.lastname: Cann
authors.forename: Xiuqing
authors.initials: X
authors.lastname: Zhang
authors.forename: Songgang
authors.initials: S
authors.lastname: Li
authors.forename: Lars
authors.initials: L
authors.lastname: Bolund
authors.forename: Karsten
authors.initials: K
authors.lastname: Kristiansen
authors.forename: Huanming
authors.initials: H
authors.lastname: Yang
authors.forename: Jun
authors.initials: J
authors.lastname: Wang
authors.forename: Jian
authors.initials: J
authors.lastname: Wang
mesh_terms: D000818:Animals; D001483:Base Sequence; D005828:Genetics, Population; D015894:Genome, Human / Q000235:genetics*; D006801:Humans; D016415:Sequence Alignment; D017422:Sequence Analysis, DNA / Q000379:methods*; D013045:Species Specificity