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PacBio-LITS: a large-insert targeted sequencing method for characterization of human disease-associated chromosomal structural variations

Background Generation of long (>5 Kb) DNA sequencing reads provides an approach for interrogation of complex regions in the human genome. Currently, large-insert whole genome sequencing (WGS) technologies from Pacific Biosciences (PacBio) enable analysis of chromosomal structural variations (SVs), but the cost to achieve the required sequence coverage across the entire human...

Launching genomics into the cloud: deployment of Mercury, a next generation sequence analysis pipeline

Background Massively parallel DNA sequencing generates staggering amounts of data. Decreasing cost, increasing throughput, and improved annotation have expanded the diversity of genomics applications in research and clinical practice. This expanding scale creates analytical challenges: accommodating peak compute demand, coordinating secure access for multiple analysts, and...

Corrigendum: Mammalian Y chromosomes retain widely expressed dosage-sensitive regulators

Ting-Jan Cho Natalia Koutseva Sara Zaghlul Tina Graves Susie Rock Colin Kremitzki Robert S. Fulton Shannon Dugan Yan Ding Donna Morton Ziad Khan Lora Lewis Christian Buhay Qiaoyan Wang Jennifer Watt

Complete Genome Sequence of Treponema paraluiscuniculi, Strain Cuniculi A: The Loss of Infectivity to Humans Is Associated with Genome Decay

Tom Albert Xiang Qin Kym Hallsworth-Pepin Christian Buhay Donna M. Muzny Lei Chen Richard A. Gibbs George M. Weinstock Cynthia Gibas, University of North Carolina at Charlotte, United States of America

Large scale variation in Enterococcus faecalis illustrated by the genome analysis of strain OG1RF

Background Enterococcus faecalis has emerged as a major hospital pathogen. To explore its diversity, we sequenced E. faecalis strain OG1RF, which is commonly used for molecular manipulation and virulence studies. Results The 2,739,625 base pair chromosome of OG1RF was found to contain approximately 232 kilobases unique to this strain compared to V583, the only publicly available...

Paradoxical DNA Repair and Peroxide Resistance Gene Conservation in Bacillus pumilus SAFR-032

BackgroundBacillus spores are notoriously resistant to unfavorable conditions such as UV radiation, γ-radiation, H2O2, desiccation, chemical disinfection, or starvation. Bacillus pumilus SAFR-032 survives standard decontamination procedures of the Jet Propulsion Lab spacecraft assembly facility, and both spores and vegetative cells of this strain exhibit elevated resistance to UV...

The DNA sequence of the human X chromosome

. Worley, M. Ali Ansari-Lari, Swaroop Aradhya, Andrea Ballabio, Mary J. Brown, David Bonnin, Christian Buhay, Paula Burch, Joseph Chako, Dean Chavez, Guan Chen, Zhijian Chen, Craig Chinault, Kerstin Clerc ... • PubMed • Google ScholarSearch for Elspeth A. Bruford in:Nature Research journals • PubMed • Google ScholarSearch for Christian Buhay in:Nature Research journals • PubMed • Google ScholarSearch for Paula