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Haplotyping germline and cancer genomes with high-throughput linked-read sequencing

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

Nature biotechnology, 2016-03, Vol.34 (3), p.303-311 [Periódico revisado por pares]

United States: Nature Publishing Group

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Título:
Haplotyping germline and cancer genomes with high-throughput linked-read sequencing
Autor: 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
Assuntos: Adenocarcinoma ; Cancer ; Deoxyribonucleic acid ; DNA ; DNA - genetics ; DNA sequencing ; Genetic aspects ; Genetic research ; Genome, Human ; Genomic Structural Variation ; Genomics ; Germ Cells ; Haplotypes ; Haplotypes - genetics ; High-Throughput Nucleotide Sequencing - methods ; Human genome ; Humans ; Identification and classification ; Methods ; Neoplasms - genetics ; Nucleic Acid Conformation ; Nucleotide sequencing ; Oncogene Proteins, Fusion - genetics ; Polymorphism, Single Nucleotide ; Sequence Analysis, DNA - methods
É parte de: Nature biotechnology, 2016-03, Vol.34 (3), p.303-311
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SourceType-Scholarly Journals-1
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content type line 23
Descrição: 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 variant information. We generate haplotype blocks in a nuclear trio that are concordant with expected inheritance patterns and phase a set of structural variants. We also resolve the structure of the EML4-ALK gene fusion in the NCI-H2228 cancer cell line using phased exome sequencing. Finally, we assign genetic aberrations to specific megabase-scale haplotypes generated from whole-genome sequencing of a primary colorectal adenocarcinoma. This approach resolves haplotype information using up to 100 times less genomic DNA than some methods and enables the accurate detection of structural variants.
Editor: United States: Nature Publishing Group
Idioma: Inglês

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Haplotyping germline and cancer genomes with high-throughput linked-read sequencing

United States: Nature Publishing Group

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