Effects of Somatic Mutations Are Associated with SNP in the Progression of Individual Acute Myeloid Leukemia Patient: The Two-Hit Theory Explains Inherited Predisposition to Pathogenesis [PDF]
This study evaluated the effects of somatic mutations and single nucleotide polymorphisms (SNPs) on disease progression and tried to verify the two-hit theory in cancer pathogenesis.
Soyoung Park, Youngil Koh, Sung-Soo Yoon
doaj +1 more source
Iterative Selection of DNA Nanostructures for Cellular Uptake
DNA nanostructures are promising cell targeting delivery vehicles for therapeutics, but the targeting behavior is not fully understood. In this study, libraries of DNA nanostructures that can be amplified and sequenced are combined with cellular uptake as a selection pressure to iteratively refine DNA structures taken up in cells to better understand ...
Anjali Rajwar +4 more
wiley +1 more source
Additional file 1 of Correcting nucleotide-specific biases in high-throughput sequencing data
Figure S1. GM12878 DNase-seq 5-mer tile covariance matrix. The pairwise correlation is shown between bias values of 5-mer tiles in a 160bp window surrounding the 5â end of aligned reads. The block structure between tiles 0 and 3 indicates correlation between adjacent k-mer frequencies within DNase-seq reads. (PDF 203 kb)
Wang, Jeremy +2 more
openaire +1 more source
Melon (Cucumis melo L.) ranks among the highest-valued fruit crops worldwide. Some genomic tools are available for this crop, including a Sanger transcriptome. We report the generation of 689,054 C. melo high-quality expressed sequence tags (ESTs) from two 454 sequencing runs, using normalized and nonnormalized complementary DNA (cDNA) libraries ...
Blanca Postigo, José Miguel +7 more
openaire +4 more sources
DNAscent v2: detecting replication forks in nanopore sequencing data with deep learning
Background Measuring DNA replication dynamics with high throughput and single-molecule resolution is critical for understanding both the basic biology behind how cells replicate their DNA and how DNA replication can be used as a therapeutic target for ...
Michael A. Boemo
doaj +1 more source
estMOI: estimating multiplicity of infection using parasite deep sequencing data. [PDF]
Individuals living in endemic areas generally harbour multiple parasite strains. Multiplicity of infection (MOI) can be an indicator of immune status and transmission intensity.
Sutherland, Colin J +5 more
core +1 more source
Deep Contrastive Learning for High‐Throughput Prediction of Drug Resistance Mutations from Sequences
This study presents DeepMutDTA, a deep learning framework aimed at predicting mutation‐induced changes in protein‐drug interactions and prioritizing variants potentially linked to drug resistance. Trained on large‐scale data, it incorporates SimSiam‐MuTF, a label‐aware contrastive fine‐tuning strategy that encourages separation between WT and MT ...
Xiaowen Hu +7 more
wiley +1 more source
The development and characterization of a 60K SNP chip for chicken [PDF]
Background In livestock species like the chicken, high throughput single nucleotide polymorphism (SNP) genotyping assays are increasingly being used for whole genome association studies and as a tool in breeding (referred to as genomic selection).
Vereijken, Addie +41 more
core +2 more sources
Modulation of miR‐23b Wnt/β‐catenin Axis Strengthens Endothelial Barrier Properties
Early blood‐brain barrier (BBB) disruption contributes to stroke and CNS disease pathology. miR‐23b was identified as a regulator of BBB integrity in brain endothelial cells. Inhibition of miR‐23b enhanced barrier‐associated properties, promoted repair‐related signaling, and reduced BBB leakage in experimental stroke models, supporting further ...
Victor Anthony Martinez +16 more
wiley +1 more source
Application of massive parallel sequencing to whole genome SNP discovery in the porcine genome [PDF]
Background Although the Illumina 1 G Genome Analyzer generates billions of base pairs of sequence data, challenges arise in sequence selection due to the varying sequence quality.
Kerstens Hindrik HD +24 more
core +1 more source

