Accurate whole-genome sequencing and haplotyping from 10 to 20 human cells

被引：166

作者：

Peters, Brock A. ^{[1
]}

Kermani, Bahram G. ^{[1
]}

Sparks, Andrew B. ^{[1
]}

Alferov, Oleg ^{[1
]}

Hong, Peter ^{[1
]}

Alexeev, Andrei ^{[1
]}

Jiang, Yuan ^{[1
]}

Dahl, Fredrik ^{[1
]}

Tang, Y. Tom ^{[1
]}

Haas, Juergen ^{[1
]}

Robasky, Kimberly ^{[2
,3
]}

Zaranek, Alexander Wait ^{[2
]}

Lee, Je-Hyuk ^{[2
,4
]}

Ball, Madeleine Price ^{[2
]}

Peterson, Joseph E. ^{[1
]}

Perazich, Helena ^{[1
]}

Yeung, George ^{[1
]}

Liu, Jia ^{[1
]}

Chen, Linsu ^{[1
]}

Kennemer, Michael I. ^{[1
]}

Pothuraju, Kaliprasad ^{[1
]}

Konvicka, Karel ^{[1
]}

Tsoupko-Sitnikov, Mike ^{[1
]}

Pant, Krishna P. ^{[1
]}

Ebert, Jessica C. ^{[1
]}

Nilsen, Geoffrey B. ^{[1
]}

Baccash, Jonathan ^{[1
]}

Halpern, Aaron L. ^{[1
]}

Church, George M. ^{[2
]}

Drmanac, Radoje ^{[1
]}

机构：

[1] Complete Genom Inc, Mountain View, CA 94043 USA

[2] Harvard Univ, Sch Med, Dept Genet, Boston, MA 02115 USA

[3] Boston Univ, Program Bioinformat, Boston, MA 02215 USA

[4] Harvard Univ, Sch Med, Wyss Inst Biologically Inspired Engn, Cambridge, MA 02115 USA

来源：

NATURE | 2012年 / 487卷 / 7406期

基金：

美国国家卫生研究院;

关键词：

OPEN-ACCESS DATABASE; JASPAR;

D O I：

10.1038/nature11236

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

Recent advances in whole-genome sequencing have brought the vision of personal genomics and genomic medicine closer to reality. However, current methods lack clinical accuracy and the ability to describe the context (haplotypes) in which genome variants co-occur in a cost-effective manner. Here we describe a low-cost DNA sequencing and haplotyping process, long fragment read (LFR) technology, which is similar to sequencing long single DNA molecules without cloning or separation of metaphase chromosomes. In this study, ten LFR libraries were made using only similar to 100 picograms of human DNA per sample. Up to 97% of the heterozygous single nucleotide variants were assembled into long haplotype contigs. Removal of false positive single nucleotide variants not phased by multiple LFR haplotypes resulted in a final genome error rate of 1 in 10 megabases. Cost-effective and accurate genome sequencing and haplotyping from 10-20 human cells, as demonstrated here, will enable comprehensive genetic studies and diverse clinical applications.

引用

页码：190 / 195

页数：6

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