Results 51 to 60 of about 2,317,928 (319)

Illuminating Choices for Library Prep: A Comparison of Library Preparation Methods for Whole Genome Sequencing of Cryptococcus neoformans Using Illumina HiSeq. [PDF]

, 2014
The industry of next-generation sequencing is constantly evolving, with novel library preparation methods and new sequencing machines being released by the major sequencing technology companies annually.
Mathew A Beale, Fisher, Matthew C, Rhodes Johanna, Matthew C Fisher, Rhodes, Johanna, Beale Mathew A., Fisher, MC, Beale, Mathew A, Fisher, Matthew C., Beale, Mathew A., Fisher Matthew C., Beale, MA, Rhodes, J, Johanna Rhodes, Rhodes, Johanna; id_orcid   +14 more
core   +1 more source

Demystifying the Discussion of Sequencing Panel Size in Oncology Genetic Testing

European Medical Journal, 2022
Clinical laboratories worldwide are implementing next-generation sequencing (NGS) to identify cancer genomic variants and ultimately improve patient outcomes. The ability to massively sequence the entire genome or exome of tumour cells has been critical
Cecília Durães, Carla Pereira Gomes, Jose Luis Costa, Luca Quagliata   +3 more
doaj   +1 more source

Sparse Sequence-to-Sequence Models [PDF]

Proceedings of the 57th Annual Meeting of the Association for Computational Linguistics, 2019
Sequence-to-sequence models are a powerful workhorse of NLP. Most variants employ a softmax transformation in both their attention mechanism and output layer, leading to dense alignments and strictly positive output probabilities. This density is wasteful, making models less interpretable and assigning probability mass to many implausible outputs.
Ben Peters, Vlad Niculae, André F. T. Martins   +2 more
openaire   +2 more sources

Personalized Zebrafish Models for Fusion‐Positive Pediatric Sarcomas

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Clinical sequencing efforts have revolutionized our approaches to categorizing pediatric cancers in real time. This has dramatically improved our ability to profile pediatric tumors, identify actionable vulnerabilities, and influence clinical care.
Lisa H. Hall, Emma N. Harrison, Genevieve C. Kendall   +2 more
wiley   +1 more source

The GENCODE exome: sequencing the complete human exome [PDF]

, 2011
Sequencing the coding regions, the exome, of the human genome is one of the major current strategies to identify low frequency and rare variants associated with human disease traits.
Palta, P, Turner, DJ, Harrow, J, Lehesjoki, AE, Eleanor Drury, Kokocinski, Felix, Drury, Eleanor, Palotie, A, Scott, Carol E, Hubbard, TJ, Palta, Priit, Scott, CE, Sarah Hunt, Lehesjoki, Anna-Elina, Tim J Hubbard, Harrow, Jen, Hunt, Sarah, Leproust, EM, Felix Kokocinski, Joyce, Christopher J, Joyce, CJ, Carol E Scott, Jen Harrow, Anna-Elina Lehesjoki, Maria S Calafato, Aarno Palotie, Calafato, MS, Priit Palta, Hunt, S, Kokocinski, F, Christopher J Joyce, Palotie, Aarno, Turner, Daniel J, Coffey, AJ, Coffey, Alison J, Alison J Coffey, Leproust, Emily M, Drury, E, Daniel J Turner, Hubbard, Tim, Calafato, Maria S, Emily M LeProust, Hubbard, Tim J; id_orcid   +42 more
core   +1 more source

Assessment of Antibiotic Resistance and Efflux Pump Gene Expression in Neisseria Gonorrhoeae Isolates from South Africa by Quantitative Real-Time PCR and Regression Analysis

International Journal of Microbiology, 2022
Introduction. Treatment of gonorrhoea infection is limited by the increasing prevalence of multidrug-resistant strains. Cost-effective molecular diagnostic tests can guide effective antimicrobial stewardship.
Nireshni Mitchev, Ravesh Singh, Veron Ramsuran, Arshad Ismail, Mushal Allam, Stanford Kwenda, Florah Mnyameni, Nigel Garrett, Khine Swe Swe-Han, Abraham J. Niehaus, Koleka P. Mlisana   +10 more
doaj   +1 more source

The Role of “Adult‐Onset” Cancer Predisposition Genes in Pediatric Cancer: A Comprehensive Review

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Current literature estimates that 10% of pediatric cancers are caused by pathogenic or likely pathogenic (P/LP) germline variants in cancer predisposition genes (CPGs). Variants in CPGs thought to increase cancer risk exclusively during adulthood are referred to as “adult‐onset” CPGs (aoCPGs).
Maria Rozo, Miriam A. Bornhorst, Angela J. Waanders, Sara Zarnegar‐Lumley, Ashwin Lakshman Koppayi, Lucy A. Godley   +5 more
wiley   +1 more source

From cheek swabs to consensus sequences : an A to Z protocol for high-throughput DNA sequencing of complete human mitochondrial genomes [PDF]

, 2014
Background: Next-generation DNA sequencing (NGS) technologies have made huge impacts in many fields of biological research, but especially in evolutionary biology. One area where NGS has shown potential is for high-throughput sequencing of complete mtDNA
Matisoo-Smith, Elizabeth A, Soria Hernanz, David F, Schurr, Theodore G., Stanton, Jo-Ann, Martínez-Cruz, Begoña, White, W. T., GaneshPrasad, Arun Kumar, Lacerda, Daniela R., Matisoo Smith, Elizabeth, White, W. Timothy J., Vilar, Miguel G., Platt, Daniel E., Parida, Laxmi, Hernanz, Soria, Martínez Cruz, Begoña, Kaplan, Matthew E., Clarke, Andrew, Schurr, Theodore G, Matisoo-Smith, Lisa, Matisoo-Smith, Elizabeth, Mitchell, R. John, Matthew E Kaplan, Vieira, Pedro Paulo, Jo-Ann L Stanton, Matisoo-Smith, Elizabeth A., Dulik, Matthew C., Zalloua, Pierre A., Kaplan, Matthew, Tyler-Smith, Chris, Kaplan, M., W Timothy J White, Santhakumari, Arun Varatharajan, Haak, Wolfgang, Quintana-Murci, Lluis, Stefan Prost, null null, Comas, David, Ziegle, Janet S., Swamikrishnan, Pandikumar, Kaplan, Matthew E, Wells, R. Spencer, HASH(0x55a67fb2a340), White, W Timothy J, Cooper, Alan, Clarke, Andrew C, Der Sarkissian, Clio S.I., The, Genographic Consortium, Stanton, J., Bertranpetit, Jaume, 1952-, White, W Timothy J., Stanton, Jo-Ann L., Stanton, Jo Ann L., Pitchappan, Ramasamy, Adhikarla, Syama, Santos, Fabrício R., Comas, David, 1969-, Haber, Marc; id_orcid, Soodyall, Himla, Royyuru, Ajay K., Prost, Stefan, Adler, Christina J., Renfrew, Colin, Jin, Li, Clark, Andrew, Elizabeth A Matisoo-Smith, Andrew C Clarke, Matisoo-Smith, E., Li, Shilin, The Genographic Consortium, Balanovsky, Oleg, Balanovska, Elena, Clarke, Andrew C., Prost, S., Merchant, Nirav C., Andrew C Clarke, Owings, Amanda C., Stanton, Jo-Ann L, White, W., Bertranpetit, Jaume, Gaieski, Jill B., Genographic Consortium, Haber, Marc, 1980-, Genographic Consortium,, Clarke, A.   +83 more
core   +1 more source

Sequencing of a central nervous system tumor demonstrates cancer transmission in an organ transplant

Life Science Alliance, 2021
This study uses DNA sequencing to trace a donor organ transplant–mediated cancer transmission and illustrates how precise molecular pathology profiles might reduce future risk for transplant recipients.
Marie-Claude Gingras, Aniko Sabo, Maria Cardenas, Abbas Rana, Sadhna Dhingra, Qingchang Meng, Jianhong Hu, Donna M Muzny, Harshavardhan Doddapaneni, Lesette Perez, Viktoriya Korchina, Caitlin Nessner, Xiuping Liu, Hsu Chao, John Goss, Richard A Gibbs   +15 more
doaj   +1 more source

T2* Magnetic Resonance Imaging Uncovers Hemosiderin Burden in Pediatric Hemophilia: A Call for Sensitive Imaging Biomarkers

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Hemophilic arthropathy remains the leading morbidity in hemophilia despite modern prophylaxis, and early joint damage may be missed by routine exams. This study explored T2* MRI as a noninvasive biomarker of hemosiderin deposition in pediatric hemophilia.
Jessica Garcia, Tarique Hussain, Jeanne Dillenbeck, Matthew Hammer, Annette von Drygalski, Guy Young, Ayesha Zia   +6 more
wiley   +1 more source