Results 61 to 70 of about 574,833 (290)

DiBELLA: Distributed long read to long read alignment [PDF]

, 2019
We present a parallel algorithm and scalable implementation for genome analysis, specifically the problem of finding overlaps and alignments for data from "third generation" long read sequencers [29]. While long sequences of DNA offer enormous advantages
Buluç, A, Ellis, M, Guidi, G, Oliker, L, Yelick, K   +4 more
core   +2 more sources

Evaluating the Utility of Paired Tumor and Germline Targeted DNA Sequencing for Pediatric Oncology Patients: A Single Institution Report

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Objective To evaluate the diagnostic yield and utility of universal paired tumor–normal multigene panel sequencing in newly diagnosed pediatric solid and central nervous system (CNS) tumor patients and to compare the detection of germline pathogenic/likely pathogenic variants (PV/LPVs) against established clinical referral criteria for cancer ...
Natalie Waligorski, Rebecca Ronsley, Shannon M. Stasi, Jeffrey Stevens, Erin R. Rudzinski, Christina M. Lockwood, Sarah E. S. Leary, Bonnie L. Cole, Michelle A. Ting, Vera Paulson   +9 more
wiley   +1 more source

Explore of nanopore sequencing technology in ambiguities of HLA genotyping

Zhongguo shuxue zazhi
[Objective] To resolve the ambiguities of HLA genotyping generated by next generation sequencing (NGS) using nanopore sequencing technology. [Methods] A total of 38 samples with ambiguous HLA genotyping by NGS in our laboratory were collected, and HLA-A,
CHEN Nanying, ZHANG Wei, DONG Lina, WANG Fang, HE Yizhen, CHEN Chen, ZHU Faming   +6 more
doaj   +1 more source

Evolution of genome sequencing techniques [PDF]

, 2016
The quality and the speed for genome sequencing has advanced at the same time that technology boundaries are stretched. This advancement has been divided so far in three generations.
Goebel Vázquez, Cristina, Henao Mejía, Luisa Maria   +1 more
core  

Capturing the ‘ome’ : the expanding molecular toolbox for RNA and DNA library construction [PDF]

, 2018
All sequencing experiments and most functional genomics screens rely on the generation of libraries to comprehensively capture pools of targeted sequences.
Boone, Morgane, Callewaert, Nico, De Koker, Andries   +2 more
core   +2 more sources

Germline TP53 Mutations Causing Diamond–Blackfan Anemia: A French Report

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Diamond–Blackfan anemia is a rare congenital erythroblastopenia typically caused by mutations in ribosomal protein genes. Recently, gain‐of‐function mutations in TP53 have been identified as a novel cause of Diamond–Blackfan anemia. We report two French patients who both harbored a heterozygous TP53 deletion (NM_000546.5: c.1077delA; p ...
Rafael Moisan, Lydie Da Costa, Ludivine David Nguyen, Heloise Chosseler, Audrey Riquet, Benedicte Bruno, Melissa Barbati   +6 more
wiley   +1 more source

Mapping the evolution of mitochondrial complex I through structural variation

FEBS Letters, EarlyView.
Respiratory complex I (CI) is crucial for bioenergetic metabolism in many prokaryotes and eukaryotes. It is composed of a conserved set of core subunits and additional accessory subunits that vary depending on the organism. Here, we categorize CI subunits from available structures to map the evolution of CI across eukaryotes. Respiratory complex I (CI)
Dong‐Woo Shin, Tingting Chen, James A. Letts   +2 more
wiley   +1 more source

Rapid and precise amplicon-based genome sequencing to preparedness and response chikungunya virus outbreaks

Emerging Microbes and Infections
Chikungunya virus (CHIKV) poses a significant global health threat. Effective genomic surveillance of CHIKV is critical for tracking transmission and evolution.
Kaiying Wang, Jinhui Li, Tianyuan Liu, Peihan Li, Ning Wang, Yuqi Liu, Yufeng Liang, Fenxiang Li, Chuhong Wei, Huacheng Yan, Peng Li   +10 more
doaj   +1 more source

Spatiotemporal and quantitative analyses of phosphoinositides – fluorescent probe—and mass spectrometry‐based approaches

FEBS Letters, EarlyView.
Fluorescent probes allow dynamic visualization of phosphoinositides in living cells (left), whereas mass spectrometry provides high‐sensitivity, isomer‐resolved quantitation (right). Their synergistic use captures complementary aspects of lipid signaling. This review illustrates how these approaches reveal the spatiotemporal regulation and quantitative
Hiroaki Kajiho, Shin Morioka, Junko Sasaki, Takehiko Sasaki   +3 more
wiley   +1 more source

Third-generation sequencing techniques and applications to drug discovery [PDF]

Expert Opinion on Drug Discovery, 2012
There is an immediate need for functional and molecular studies to decipher differences between disease and 'normal' settings to identify large quantities of validated targets with the highest therapeutic utilities. Furthermore, drug mechanism of action and biomarkers to predict drug efficacy and safety need to be identified for effective design of ...
openaire   +2 more sources