De novo genome assembly of a Han Chinese male and genome-wide detection of structural variants using Oxford Nanopore sequencing-Reference-Cited by-同舟云学术

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De novo genome assembly of a Han Chinese male and genome-wide detection of structural variants using Oxford Nanopore sequencing

Published:2020-04-09 Issue:4 Volume:295 Page:871-876
ISSN:1617-4615
Container-title:Molecular Genetics and Genomics
language:en
Short-container-title:Mol Genet Genomics

Author:

Cai Ruikun^ORCID,Dong Yichao,Fang Mingxia,Guo Changlong,Ma Xu

Funder

the National Key Research and Development Program

the Non-profit Central Research Institute Fund of National Research Institute For Family Planning

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,General Medicine

Link

http://link.springer.com/content/pdf/10.1007/s00438-020-01672-y.pdf

Reference25 articles.

1. Berlin K, Koren S, Chin CS, Drake JP, Landolin JM, Phillippy AM (2015) Assembling large genomes with single-molecule sequencing and locality-sensitive hashing. Nat Biotechnol 33:623–630

2. BIG Data Center (2020) Database resources of the National Genomics Data Center in 2020. Nucleic Acids Res 48:D24–D33

3. Cretu Stancu M, van Roosmalen MJ, Renkens I, Nieboer MM, Middelkamp S, de Ligt J, Pregno G, Giachino D, Mandrile G, Espejo Valle-Inclan J, Korzelius J, de Bruijn E, Cuppen E, Talkowski ME, Marschall T, de Ridder J, Kloosterman WP (2017) Mapping and phasing of structural variation in patient genomes using nanopore sequencing. Nat Commun 8:1326

4. Du Z, Ma L, Qu H, Chen W, Zhang B, Lu X, Zhai W, Sheng X, Sun Y, Li W, Lei M, Qi Q, Yuan N, Shi S, Zeng J, Wang J, Yang Y, Liu Q, Hong Y, Dong L, Zhang Z, Zou D, Wang Y, Song S, Liu F, Fang X, Chen H, Liu X, Xiao J, Zeng C (2019) Whole genome analyses of Chinese population and de novo assembly of a Northern Han Genome. Genom Proteom Bioinform 17:229–247

5. Eichler EE, Clark RA, She X (2004) An assessment of the sequence gaps: unfinished business in a finished human genome. Nat Rev Genet 5:345–354

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