Results 31 to 40 of about 3,190,493 (303)

Plasma-based longitudinal mutation monitoring as a potential predictor of disease progression in subjects with adenocarcinoma in advanced non-small cell lung cancer

open access: yesBMC Cancer, 2020
Background Identifying and tracking somatic mutations in cell-free DNA (cfDNA) by next-generation sequencing (NGS) has the potential to transform the clinical management of subjects with advanced non-small cell lung cancer (NSCLC). Methods Baseline tumor
John Jiang   +14 more
doaj   +1 more source

Detecting mutations in mixed sample sequencing data using empirical Bayes [PDF]

open access: yes, 2012
We develop statistically based methods to detect single nucleotide DNA mutations in next generation sequencing data. Sequencing generates counts of the number of times each base was observed at hundreds of thousands to billions of genome positions in ...
Bell, John   +4 more
core   +3 more sources

Sequence nets

open access: yesPhysical Review E, 2008
We study a new class of networks, generated by sequences of letters taken from a finite alphabet consisting of $m$ letters (corresponding to $m$ types of nodes) and a fixed set of connectivity rules. Recently, it was shown how a binary alphabet might generate threshold nets in a similar fashion [Hagberg et al., Phys. Rev. E 74, 056116 (2006)].
Sun, Jie   +2 more
openaire   +3 more sources

Grounded Sequence to Sequence Transduction

open access: yesIEEE Journal of Selected Topics in Signal Processing, 2020
Speech recognition and machine translation have made major progress over the past decades, providing practical systems to map one language sequence to another. Although multiple modalities such as sound and video are becoming increasingly available, the state-of-the-art systems are inherently unimodal, in the sense that they take a single modality ...
Lucia Specia   +17 more
openaire   +3 more sources

VarDict: a novel and versatile variant caller for next-generation sequencing in cancer research [PDF]

open access: yes, 2016
Accurate variant calling in next generation sequencing (NGS) is critical to understand cancer genomes better. Here we present VarDict, a novel and versatile variant caller for both DNA- and RNA-sequencing data.
Ahdesmaki, Miika   +9 more
core   +2 more sources

ConcatSeq: A method for increasing throughput of single molecule sequencing by concatenating short DNA fragments

open access: yesScientific Reports, 2017
Single molecule sequencing (SMS) platforms enable base sequences to be read directly from individual strands of DNA in real-time. Though capable of long read lengths, SMS platforms currently suffer from low throughput compared to competing short-read ...
Ulrich Schlecht   +3 more
doaj   +1 more source

ATAC Sequencing Protocol For Cryopreserved Mammalian Cells

open access: yesBio-Protocol, 2022
ATAC-seq (assay for transposase-accessible chromatin with high-throughput sequencing) is a powerful method to evaluate chromatin accessibility and nucleosome positioning at a genome-wide scale.
Juan Manuel Caravaca   +3 more
doaj   +1 more source

SVhound: detection of regions that harbor yet undetected structural variation

open access: yesBMC Bioinformatics, 2023
Background Recent population studies are ever growing in number of samples to investigate the diversity of a population or species. These studies reveal new polymorphism that lead to important insights into the mechanisms of evolution, but are also ...
Luis F. Paulin   +5 more
doaj   +1 more source

16S rRNA gene sequencing of mock microbial populations- impact of DNA extraction method, primer choice and sequencing platform [PDF]

open access: yes, 2016
peer-reviewedBackground Next-generation sequencing platforms have revolutionised our ability to investigate the microbiota composition of complex environments, frequently through 16S rRNA gene sequencing of the bacterial component of the
Claesson, Marcus J.   +4 more
core   +2 more sources

From Information Overload to Actionable Insights: Digital Solutions for Interpreting Cancer Variants from Genomic Testing

open access: yesJournal of Molecular Pathology, 2021
Given the increase in genomic testing in routine clinical use, there is a growing need for digital technology solutions to assist pathologists, oncologists, and researchers in translating variant calls into actionable knowledge to personalize patient ...
Stephanie J. Yaung, Adeline Pek
doaj   +1 more source

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