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Noah Spies, Justin M. Zook, Marc L. Salit, Arend Sidow
We present svviz, a sequencing read visualizer for structural variants (SVs) that sorts and displays only reads relevant to a candidate SV. This is accomplished by searching input bam(s) for potentially relevant reads, realigning them against the inferred
BACKGROUND: A 3.4kb deletion (3.4kbΔ) in mitochondrial DNA (mtDNA) found in histologically normal prostate biopsy specimens has been reported to be a biomarker for the increased probability of prostate cancer. Increased mtDNA copy number is also reported
Pawel Jaruga, Erdem Coskun, M Miral Dizdar, Nathan Donley, Stephen Lloyd, Amanda McCullough
ABSTRACT The DNA base excision repair (BER) pathway, which utilizes DNA glycosylases to initiate repair of specific DNA lesions, is the major pathway for the repair of DNA damage induced by oxidation, alkylation, and deamination. Early results from
It is often necessary to obtain isotopically labeled proteins containing 15N, 13C or 2H for NMR; and 2H for small-angle neutron scattering (SANS) or neutron diffraction studies. To achieve uniform isotopic labeling, protein expression is most commonly
Aric W. Sanders, Kavita M. Jeerage, Ann C. Chiaramonti Debay, Alexandra Curtin
Gold nanoparticles (GNPs) are gaining importance as therapeutic chemical delivery vehicles, medical diagnostic tools, phototherapeutic and contrast enhancement agents. GNPs are uniquely suited for these biological uses because of their chemical stability
Heba Degheidy, Fatima Abbasi, Howard Mostowski, Adolfas Gaigalas, Gerald Marti, Steven Bauer, Lili Wang
Detecting changes in the expression levels of cell antigens could provide critical information for the diagnosis of many diseases, e.g. leukemia, lymphoma and immunodeficiency diseases, detecting minimal residual disease, monitoring immunotherapies and
Prasad T. Reddy, Pawel Jaruga, Bryant C. Nelson, Mark Lowenthal, Ann-Sofie Jemth, Olga Loseva, Erdem Coskun, Thomas Helleday, Miral M. Dizdar
Oxidatively induced DNA damage is caused in living organisms by a variety of damaging agents, resulting in the formation of a multiplicity of lesions, which are mutagenic and cytotoxic. Unless repaired by DNA repair mechanisms before DNA replication, DNA
Justin M. Zook, Anil Patwardhan, Marc L. Salit, Carlos Bustamante, Euan Ashley, Michael Snyder, John West, Richard Chen
Exome sequencing is increasingly used for the clinical evaluation of genetic disease, yet accuracy and coverage in medically interpretable parts of the genome remains under-characterized. We evaluate recently developed exome sequencing platforms in the
The two major forms of vitamin D, vitamin D3 and vitamin D2, are metabolized in the liver through hydroxylation to 25-hydroxyvitamin D species, and then further hydroxylated in the kidney to various dihydroxyvitamin D species. 24R,25-Dihydroxyvitamin D3
Justin M. Zook, Amy Gargis, Lisa Kalman, Ira Lubin, Marc L. Salit
We direct your readers' attention to the principles and guidelines (see Supplementary Guidelines) developed by the Next-generation Sequencing: Standardization of Clinical Testing II (Nex-StoCT II) informatics workgroup, which was convened by the Centers
Nathanael D. Olson, Steven P. Lund, Rebecca Colman, Jeffery T. Foster, Jason W. Sahl, James M. Schupp, Paul Keim, Jayne B. Morrow, Marc L. Salit, Justin M. Zook
Innovations in sequencing technologies have allowed biologists to make incredible advances in understanding biological systems. As experience grows, researchers increasingly recognize that analyzing the wealth of data provided by these new sequencing
Robert G. Brinson, Jennifer T. Miller, Kahn Jason, Stuart F. Le Grice, John P. Marino
Proton assignment of NMR spectra of oligonucleotide duplexes can become difficult with increasing helical length due to cross peak overlap. Here we describe an alternative to 15N and 13C labeling that facilitates assignment via single site substitution
Erdem Coskun, Pawel Jaruga, Ann-Sofie Jemth, Olga Loseva, Leona D. Scanlan, Alessandro Tona, Mark S. Lowenthal, Thomas Helleday, M Miral Dizdar
MTH1 protein sanitizes the nucleotide pool so that modified 2'-deoxynucleoside triphosphates (dNTPs) cannot be used in DNA replication. Cancer cells require MTH1 to avoid incorporation of modified dNTPs resulting in DNA damage mutations and cell death
Kyle W. Anderson, Illarion V. Turko, Natalia Mast, Irina A. Pikuleva
Alzheimers disease (AD) is the most common neurodegenerative disorder, yet it is poorly understood. Currently, there is no treatment to delay onset or slow progression of AD. Epigenetics of AD is a growing field that has gained interest due to the
Nathanael D. Olson, Nancy J. Lin, Scott A. Jackson
Advances in DNA sequencing over the last decade have lowered the barrier to whole genome sequencing. However, additional challenges must be overcome before widespread adoption of whole genome sequencing is realized for pathogen identification in applied
Geoffrey B. McFadden, Augustin Luna, Mirit I. Aladjem, Kurt W. Kohn
The circadian clock is a set of regulatory steps that oscillate with a period of approximately 24 hours influencing many biological processes. These oscillations are robust to external stresses, and in the case of genotoxic stress (i.e. DNA damage), the
Katherine Gettings, Kevin M. Kiesler, Peter Vallone
Forensic DNA casework samples are often of insufficient quantity or quality to generate full profiles by conventional DNA typing methods. Amplification of STR loci is inherently limited in samples containing degraded DNA, as the cumulative size of repeat
All organisms use multiple DNA polymerases to replicate and maintain their genomes. In archaea, members of family B and family D (polD) DNA polymerases were suggested to participate in chromosomal replication. However, recent studies with Thermococcus
John F. Lesoine, Ji Y. Lee, Hyeong G. Kang, Matthew L. Clarke, Robert C. Chang, Ralph Nossal, Jeeseong C. Hwang
We introduce real-time, full-field, polarization rotating fluorescence microscopy (PROM) to monitor the absorption dipole orientations of fluorescent molecules. A quarter-wave plate, in combination with a liquid crystal variable retarder (LCVR), provides a
Vyacheslav B. Podobedov, George P. Eppeldauer, Thomas C. Larason
A new definition is proposed for the calibration of Night Vision Goggle (NVG) gains. This definition is based on the measurement of radiometric input and output quantities of the NVG. While the old definition used the equivalent fL which is a non SI
Kyle W. Anderson, Illarion V. Turko, Meiyao M. Wang, Junjun J. Chen, Irina A. Pikuleva, Natalia Mast
Histone deacetylases (HDACs) are primarily responsible for the deacetylation of histones, thereby regulating gene expression, as well as modifying many non-histone proteins. HDAC inhibition has promise as a therapy for Alzheimers disease (AD) and other
Nathan A. Hotaling, Kapil Bharti, Haydn Kriel, Carl G. Simon Jr.
Despite the growing use of nanofiber scaffolds for tissue engineering applications, there is not a validated, readily available (commercial or open source) solution for rapid, automated analysis of nanofiber diameter from scanning electron microscope (SEM)
Mark S. Lowenthal, Sanford P. Markey, Ayse Dosemeci
Quantitative studies are presented of postsynaptic density (PSD) fractions from rat cerebral cortex with the ultimate goal of defining the average copy numbers of proteins in the PSD complex. Highly specific and selective isotope dilution mass spectrometry
For the 7th year in a row the Art in Science award competition, sponsored by Lab on a Chip and the National Institute of Standards and Technology (NIST), took place at the 18th International Conference of Miniaturized Systems for Chemistry and Life
Alexander J. Neumann, Timothy P. Quinn, Stephanie J. Bryant
Mw 20 000 8-arm PEG was functionalized with ε-Caprolactone (Sigma) and, subsequently, conjugated with 5-nobornene-2-carboxylic acid (Sigma). H NMR was used to confirm the final product. Bovine chondrocytes were isolated from full-depth articular cartilage