Results 101 to 110 of about 10,751,278 (348)

Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome

Nature Biotechnology, 2019
The DNA sequencing technologies in use today produce either highly accurate short reads or less-accurate long reads. We report the optimization of circular consensus sequencing (CCS) to improve the accuracy of single-molecule real-time (SMRT) sequencing (
A. Wenger, P. Peluso, W. Rowell, Pi-Chuan Chang, R. Hall, G. Concepcion, Jana Ebler, Arkarachai Fungtammasan, Alexey Kolesnikov, Nathan D. Olson, A. Töpfer, Michael Alonge, M. Mahmoud, Yufeng Qian, C. Chin, A. Phillippy, M. Schatz, G. Myers, M. DePristo, Jue Ruan, T. Marschall, F. Sedlazeck, J. Zook, Heng Li, S. Koren, Andrew Carroll, D. Rank, M. Hunkapiller   +27 more
semanticscholar   +1 more source

Circulating tumor cells: advancing personalized therapy in small cell lung cancer patients

Molecular Oncology, EarlyView.
Small cell lung cancer (SCLC) is an aggressive form of lung cancer that spreads rapidly to secondary sites such as the brain and liver. Cancer cells circulating in the blood, “circulating tumor cells” (CTCs), have demonstrated prognostic value in SCLC, and evaluating biomarkers on CTCs could guide treatment decisions such as for PARP inhibitors ...
Prajwol Shrestha, Steven Kao, Veronica K. Cheung, Wendy A. Cooper, Nico van Zandwijk, John E. J. Rasko, Dannel Yeo   +6 more
wiley   +1 more source

Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising

Orphanet Journal of Rare Diseases, 2019
Background Determining the etiology of oculocutaneous albinism is important for proper clinical management and to determine prognosis. The purpose of this study was to genotype and phenotype eight adopted Chinese children who presented with ...
Bradley Power, Carlos R. Ferreira, Dong Chen, Wadih M. Zein, Kevin J. O’Brien, Wendy J. Introne, Joshi Stephen, William A. Gahl, Marjan Huizing, May Christine V. Malicdan, David R. Adams, Bernadette R. Gochuico   +11 more
doaj   +1 more source

Mito-SiPE is a sequence-independent and PCR-free mtDNA enrichment method for accurate ultra-deep mitochondrial sequencing

Communications Biology, 2022
Mito-SiPE is a mitochondrial DNA (mtDNA) enrichment method that can derive high-quality mtDNA for rare heteroplasmy analysis, without relying on PCR or probes.
Darren J. Walsh, David J. Bernard, Faith Pangilinan, Madison Esposito, Denise Harold, Anne Parle-McDermott, Lawrence C. Brody   +6 more
doaj   +1 more source

Complete Genome Sequence of a Divergent Human Rhinovirus C Isolate from an Infant with Severe Community-Acquired Pneumonia in Colorado, USA. [PDF]

, 2017
Here, we report the genome sequence of a divergent human rhinovirus C isolate identified from an infant with a severe community-acquired respiratory infection. RNA sequencing performed on an Illumina platform identified reads aligning to human rhinovirus
DeRisi, Joseph L, Langelier, Charles, Mourani, Peter M, Sontag, Marci K, White, Corin V   +4 more
core  

Comparative genomic analyses reveal a lack of a substantial signature of host adaptation in Rhodococcus equi (‘Prescottella equi’) [PDF]

, 2013
Rhodococcus equi (‘Prescottella equi’) is a pathogenic actinomycete primarily infecting horses but has emerged as an opportunistic human pathogen. We have sequenced the genome of the type strain of this species, R.
Arruda, Aziz, Aziz, Clark, Darling, Giguere, Goodfellow, Grant, Jones, Jones, Jones, Kedlaya, Kämpfer, Lai, Law, Letek, Letek, Lowder, McLeod, Mohn, Pena-Moctezuma, Prescott, Prescott, Resch, Reumerman, Sangal, Sangal, Segata, Sekine, Takai, Takai, Teufel, Vazquez-Boland, Vera-Cabrera, Vernikos, Yamshchikov   +35 more
core   +1 more source

Nanopore sequencing and assembly of a human genome with ultra-long reads

Nature Biotechnology, 2017
We report the sequencing and assembly of a reference genome for the human GM12878 Utah/Ceph cell line using the MinION (Oxford Nanopore Technologies) nanopore sequencer.
Miten Jain, S. Koren, K. Miga, J. Quick, Arthur C. Rand, T. Sasani, J. R. Tyson, A. Beggs, A. Dilthey, Ian T. Fiddes, S. Malla, Hannah Marriott, T. Nieto, J. O’Grady, Hugh E. Olsen, Brent S. Pedersen, A. Rhie, H. Richardson, A. Quinlan, T. Snutch, Louise Tee, B. Paten, A. Phillippy, J. Simpson, N. Loman, M. Loose   +25 more
semanticscholar   +1 more source

A comparative study of circulating tumor cell isolation and enumeration technologies in lung cancer

Molecular Oncology, EarlyView.
Lung cancer cells were spiked into donor blood to evaluate the recovery rates of the following circulating tumor cell (CTC) enrichment technologies: CellMag™, EasySep™, RosetteSep™, Parsortix® PR1, and Parsortix® Prototype systems. Each method's advantages and disadvantages are described.
Volga M Saini, Ezgi Oner, Mark P. Ward, Sinead Hurley, Brian David Henderson, Faye Lewis, Stephen P. Finn, Gerard J. Fitzmaurice, John J. O'Leary, Sharon O'Toole, Lorraine O'Driscoll, Kathy Gately   +11 more
wiley   +1 more source

MEK inhibition remodels the active chromatin landscape and induces SOX10 genomic recruitment in BRAF(V600E) mutant melanoma cells

Epigenetics & Chromatin, 2019
Background The MAPK/ERK signaling pathway is an essential regulator of numerous cell processes that are crucial for normal development as well as cancer progression.
Temesgen D. Fufa, Laura L. Baxter, Julia C. Wedel, Derek E. Gildea, NISC Comparative Sequencing Program, Stacie K. Loftus, William J. Pavan   +6 more
doaj   +1 more source

Genetic pattern of SMN1, SMN2, and NAIP genes in prognosis of SMA patients

Egyptian Journal of Medical Human Genetics, 2020
Background Spinal muscular atrophy (SMA) is the most common autosomal recessive disorder in humans after cystic fibrosis. It is classified into five clinical grades based on age of onset and severity of the disease.
Heba Amin Hassan, Maha Saad Zaki, Mahmoud Yousry Issa, Nagham Maher El-Bagoury, Mona Lotfi Essawi   +4 more
doaj   +1 more source