Results 41 to 50 of about 2,317,928 (319)

Quantifying single nucleotide variant detection sensitivity in exome sequencing [PDF]

, 2013
BACKGROUND: The targeted capture and sequencing of genomic regions has rapidlydemonstrated its utility in genetic studies. Inherent in this technology isconsiderable heterogeneity of target coverage and this is expected tosystematically impact our ...
Taylor, Martin S.; id_orcid, Andrew P Jackson, Alison M Meynert, Jackson, Andrew, Bicknell, Louise, Martin S Taylor, Matthew E Hurles, Meynert, Alison, Louise S Bicknell   +8 more
core   +1 more source

Identifying predictive features of Clostridium difficile infection recurrence before, during, and after primary antibiotic treatment

Microbiome, 2017
Background Colonization by the pathogen Clostridium difficile often occurs in the background of a disrupted microbial community. Identifying specific organisms conferring resistance to invasion by C.
Sepideh Pakpour, Amit Bhanvadia, Roger Zhu, Abhimanyu Amarnani, Sean M. Gibbons, Thomas Gurry, Eric J. Alm, Laura A. Martello   +7 more
doaj   +1 more source

Hidden biases in germline structural variant detection

Genome Biology, 2021
Background Genomic structural variations (SV) are important determinants of genotypic and phenotypic changes in many organisms. However, the detection of SV from next-generation sequencing data remains challenging.
Michael M. Khayat, Sayed Mohammad Ebrahim Sahraeian, Samantha Zarate, Andrew Carroll, Huixiao Hong, Bohu Pan, Leming Shi, Richard A. Gibbs, Marghoob Mohiyuddin, Yuanting Zheng, Fritz J. Sedlazeck   +10 more
doaj   +1 more source

Genomic Diversity and Clinical Variability in Pediatric Primary Cutaneous Anaplastic Large Cell Lymphoma: A Case Series

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Primary cutaneous anaplastic large cell lymphoma (pcALCL) is a rare pediatric CD30‐positive T‐cell lymphoproliferative disorder with an excellent prognosis, but its genomic drivers are poorly defined. We report three children with skin‐limited disease demonstrating striking molecular heterogeneity, including NPM::ALK, NUP214::FRK, and a novel ...
Shoshana Greenberger, Efrat Bar‐Ilan, Victoria Marcu, Evgeny Grishin, Rinat Yacobi, Aviv Barzilai, Hana Golan, Assaf Arie Barg   +7 more
wiley   +1 more source

High-throughput SuperSAGE for digital gene expression analysis of multiple samples using next generation sequencing [PDF]

, 2010
We established a protocol of the SuperSAGE technology combined with next-generation sequencing, coined "High- Throughput (HT-) SuperSAGE". SuperSAGE is a method of digital gene expression profiling that allows isolation of 26-bp tag fragments from ...
Schroth, G.P., Terauchi, Ryohei, Hideo Matsumura, Schroth Gary P, Krüger Detlev H., Kentaro Yoshida, Kahl, Guenter, Kahl, G., Fujibe, Takahiro, Krueger, Detlev H, Takahiro Fujibe, Luo, Shujun, Fujibe, T., Terauchi Ryohei, Eiji Kimura, Barrero, Roberto A, Yoshida Kentaro, Luo, S., Barrero Roberto A, Terauchi Ryohei, Albertyn Zayed, Luo, Shujun, Shujun Luo, Kimura, Eiji, Barrero, R.A., Schroth, Gary P., Terauchi, Ryohei, Detlev H Krüger, Yoshida Kentaro, Albertyn, Z., Ryohei Terauchi, Roberto A Barrero, Yoshida, Kentaro, Kahl Günter, Matsumura, Hideo, Luo Shujun, Krueger Detlev H, Albertyn Zayed, Gary P. Schroth, Kahl Guenter, Matsumura, Hideo, Fujibe Takahiro, Matsumura Hideo, Yoshida, K., Fujibe, Takahiro, Schroth Gary P., Krüger, D.H., Kahl, Günter, Luo Shujun, Krüger, Detlev H., Kimura, Eiji, Gary P Schroth, Albertyn, Zayed, Matsumura Hideo, Barrero Roberto A., Schroth, Gary P, Zayed Albertyn, Kimura, E., Terauchi, R., Kimura Eiji, Detlev H. Krüger, Albertyn, Zayed, Matsumura, H., Yoshida, Kentaro, Fujibe Takahiro, Barrero, Roberto A., Kimura Eiji, Roberto A. Barrero, Günter Kahl   +68 more
core   +2 more sources

Pre-sequencing assessment of RNA-Seq library quality using real-time qPCR

BioTechniques
RNA sequencing (RNA-Seq) is an essential assay for studying transcriptome profiling. Ribosomal RNA (rRNA) comprises more than 80–90% of total cellular RNA; efficient removal is essential for accurately capturing transcriptomes, particularly to sequence ...
Kavya Kottapalli, Hsu Chao, Qi Jiang, Jimmonique Donelson, Nathanael Emerick, Sravya V Bhamidipati, Zeineen Momin, Tittu Mathew, Ziad M. Khan, Viktoriya Korchina, Marie-Claude Gingras, Donna Muzny, Richard Gibbs, Harsha Doddapaneni   +13 more
doaj   +1 more source

Convolutional Sequence to Sequence Learning

CoRR, 2017
The prevalent approach to sequence to sequence learning maps an input sequence to a variable length output sequence via recurrent neural networks. We introduce an architecture based entirely on convolutional neural networks. Compared to recurrent models, computations over all elements can be fully parallelized during training and optimization is easier
Jonas Gehring, Michael Auli, David Grangier, Denis Yarats, Yann N. Dauphin   +4 more
openaire   +3 more sources

Central Nervous System Neuroblastoma, FOXR2‐Activated: A Pooled Analysis of Published Clinical Outcomes

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Central nervous system (CNS) neuroblastoma, FOXR2‐activated, is a recently recognized entity in the WHO CNS5 classification, defined by activation of the FOXR2 transcription factor and unique histopathological features. This review synthesizes available literature and pooled clinical data, providing insight into demographics ...
Sudarshawn Damodharan, Mohamed S. Abdelbaki   +1 more
wiley   +1 more source

Targeted phasing of 2–200 kilobase DNA fragments with a short-read sequencer and a single-tube linked-read library method

Scientific Reports
In the human genome, heterozygous sites refer to genomic positions with a different allele or nucleotide variant on the maternal and paternal chromosomes.
Veronika Mikhaylova, Madison Rzepka, Tetsuya Kawamura, Yu Xia, Peter L. Chang, Shiguo Zhou, Amber Paasch, Long Pham, Naisarg Modi, Likun Yao, Adrian Perez-Agustin, Sara Pagans, T. Christian Boles, Ming Lei, Yong Wang, Ivan Garcia-Bassets, Zhoutao Chen   +16 more
doaj   +1 more source

Guidelines for Pediatric Radiotherapy Simulation: A Report From the Children's Oncology Group Radiation Oncology Discipline

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Pediatric radiation therapy presents unique challenges compared to adult treatments, including those of immobilization, potential need for sedation, and the critical importance of accurate, reproducible positioning. Additionally, heightened attention to imaging doses is necessary to minimize long‐term toxicity in survivors.
Parham Alaei, Stephen Mihalcik, Sujith Baliga, Young Kwok, Dana Casey, Eric Ehler, Christiane Burton, John C. Breneman, Daphne A. Haas‐Kogan, Suzanne L. Wolden, Arnold C. Paulino, Nadia N. Laack, Natia Esiashvili, Sarah Milgrom, Christine Hill‐Kayser, Thomas J. Fitzgerald, John A. Kalapurakal, Chia‐Ho Hua   +17 more
wiley   +1 more source