Article
Accurate whole-genome sequencing and haplotyping from 10 to 20 human cells.
Nature - 11 Jul 2012
Peters Brock A, Kermani Bahram G, Sparks Andrew B, Alferov Oleg, Hong Peter, Alexeev Andrei, Jiang Yuan, Dahl Fredrik, Tang Y Tom, Haas Juergen, Robasky Kimberly, Zaranek Alexander Wait, Lee Je-Hyuk, Ball Madeleine Price, Peterson Joseph E, Perazich Helena, Yeung George, Liu Jia, Chen Linsu, Kennemer Michael I, Pothuraju Kaliprasad, Konvicka Karel, Tsoupko-Sitnikov Mike, Pant Krishna P, Ebert Jessica C, Nilsen Geoffrey B, Baccash Jonathan, Halpern Aaron L, Church George M, Drmanac Radoje
Abstract excerpt
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...
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