Article
Haplotyping germline and cancer genomes with high-throughput linked-read sequencing.
Nature biotechnology - 1 Mar 2016
Zheng Grace X Y, Lau Billy T, Schnall-Levin Michael, Jarosz Mirna, Bell John M, Hindson Christopher M, Kyriazopoulou-Panagiotopoulou Sofia, Masquelier Donald A, Merrill Landon, Terry Jessica M, Mudivarti Patrice A, Wyatt Paul W, Bharadwaj Rajiv, Makarewicz Anthony J, Li Yuan, Belgrader Phillip, Price Andrew D, Lowe Adam J, Marks Patrick, Vurens Gerard M, Hardenbol Paul, Montesclaros Luz, Luo Melissa, Greenfield Lawrence, Wong Alexander, Birch David E, Short Steven W, Bjornson Keith P, Patel Pranav, Hopmans Erik S, Wood Christina, Kaur Sukhvinder, Lockwood Glenn K, Stafford David, Delaney Joshua P, Wu Indira, Ordonez Heather S, Grimes Susan M, Greer Stephanie, Lee Josephine Y, Belhocine Kamila, Giorda Kristina M, Heaton William H, McDermott Geoffrey P, Bent Zachary W, Meschi Francesca, Kondov Nikola O, Wilson Ryan, Bernate Jorge A, Gauby Shawn, Kindwall Alex, Bermejo Clara, Fehr Adrian N, Chan Adrian, Saxonov Serge, Ness Kevin D, Hindson Benjamin J, Ji Hanlee P
Abstract excerpt
Haplotyping of human chromosomes is a prerequisite for cataloguing the full repertoire of genetic variation. We present a microfluidics-based, linked-read sequencing technology that can phase and haplotype germline and cancer genomes using nanograms of input DNA. This high-throughput platform prepares barcoded libraries for short-read sequencing and computationally reconstructs long-range haplotype and structural...
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