Title |
Accurate whole-genome sequencing and haplotyping from 10 to 20 human cells
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Published in |
Nature, July 2012
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DOI | 10.1038/nature11236 |
Pubmed ID | |
Authors |
Brock A. Peters, Bahram G. Kermani, Andrew B. Sparks, Oleg Alferov, Peter Hong, Andrei Alexeev, Yuan Jiang, Fredrik Dahl, Y. Tom Tang, Juergen Haas, Kimberly Robasky, Alexander Wait Zaranek, Je-Hyuk Lee, Madeleine Price Ball, Joseph E. Peterson, Helena Perazich, George Yeung, Jia Liu, Linsu Chen, Michael I. Kennemer, Kaliprasad Pothuraju, Karel Konvicka, Mike Tsoupko-Sitnikov, Krishna P. Pant, Jessica C. Ebert, Geoffrey B. Nilsen, Jonathan Baccash, Aaron L. Halpern, George M. Church, Radoje Drmanac |
Abstract |
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 ∼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. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 30 | 21% |
United Kingdom | 19 | 13% |
Spain | 8 | 6% |
France | 5 | 3% |
Germany | 5 | 3% |
Australia | 3 | 2% |
Canada | 3 | 2% |
Brazil | 3 | 2% |
South Africa | 2 | 1% |
Other | 15 | 10% |
Unknown | 51 | 35% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 92 | 64% |
Scientists | 42 | 29% |
Science communicators (journalists, bloggers, editors) | 5 | 3% |
Practitioners (doctors, other healthcare professionals) | 5 | 3% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 38 | 6% |
United Kingdom | 6 | <1% |
Germany | 4 | <1% |
Netherlands | 3 | <1% |
France | 3 | <1% |
Brazil | 3 | <1% |
Japan | 3 | <1% |
Belgium | 3 | <1% |
Korea, Republic of | 2 | <1% |
Other | 20 | 3% |
Unknown | 602 | 88% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 205 | 30% |
Student > Ph. D. Student | 167 | 24% |
Professor > Associate Professor | 54 | 8% |
Other | 51 | 7% |
Student > Master | 49 | 7% |
Other | 123 | 18% |
Unknown | 38 | 6% |
Readers by discipline | Count | As % |
---|---|---|
Agricultural and Biological Sciences | 357 | 52% |
Biochemistry, Genetics and Molecular Biology | 110 | 16% |
Medicine and Dentistry | 48 | 7% |
Computer Science | 41 | 6% |
Engineering | 22 | 3% |
Other | 55 | 8% |
Unknown | 54 | 8% |