Linking patient records at scale with a hybrid approach combining contrastive learning and deterministic rules [0.03%]
结合对比学习和确定性规则的大规模患者记录链接方法
Cheng Cao,Jay Pillai,Sara Daraei et al.
Cheng Cao et al.
Linking patient records across disparate healthcare systems is essential to create comprehensive views of patient health, yet this task is complicated by inconsistent identifiers and data quality issues. Although traditional deterministic a...
Enhanced formulation of precision probiotics through active machine learning [0.03%]
通过主动机器学习增强精准益生菌配方
Anweshit Panda,Manaswani Adhikari,Sourya Subhra Nasker et al.
Anweshit Panda et al.
The human gut microbiome is crucial to health, with dysbiosis increasingly linked to disease. Precision probiotics offer a promising approach to restoring microbial balance, but ensuring probiotic viability through gastrointestinal transit ...
Resolving haplotypes of the glucose-6-phosphate dehydrogenase gene using long-range polymerase chain reaction and Oxford Nanopore sequencing [0.03%]
利用长扩增子测序和牛津纳米孔测序解析葡萄糖-6-磷酸脱氢酶基因的单倍型
Kamonwan Chamchoy,Beatriz Aira C Jacob,Usa Boonyuen
Kamonwan Chamchoy
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common human enzymopathy and poses a major concern on safe administration of oxidative drugs, including antimalarials such as primaquine and tafenoquine. Common diagnostic appr...
Novel cell-based assay enables FRET-based measurements of the dimerization activity of the chaperone DNAJB6 [0.03%]
一种新型细胞基质测定法可对分子伴侣DNAJB6二聚化活性进行FRET测量
Anna Gelman,Luis Quintino,Manja Nordberg et al.
Anna Gelman et al.
The chaperone DNAJB6 inhibits aggregation of several amyloid proteins, such as α-synuclein and huntingtin, which are involved in neurodegenerative diseases. Here, we designed a cell-based assay to measure DNAJB6 dimerization in HEK293 cell...
ssDNA-PLA, a proximity ligation assay to interrogate DNA damage response proteins involved in homologous recombination [0.03%]
一种用于探究同源重组过程中涉及的DNA损伤反应蛋白的邻近连接分析法(ssDNA-PLA)
Yunhan Yang,Yanping Li,Xiao-Xin Sun et al.
Yunhan Yang et al.
DNA end resection is critical for DNA double-strand break repair via homologous recombination (HR) and replication-coupled repair. Traditional approaches for detecting DNA end resection in cells include fluorescence imaging for replication ...
The protocol for mesoscopic wide-field optical imaging in mice: from zero to hero [0.03%]
小鼠介观宽场光学成像技术协议：从零到英雄
Evgenia N Kislukhina,Natalia V Lizunova,Alexander M Surin et al.
Evgenia N Kislukhina et al.
This article provides protocols that enable researchers to master mesoscopic wide-field optical brain imaging from scratch. The protocols describe surgery for wide-field cranial window creation in mice, as well as the imaging process and se...
DisSNPNet: Predicting disease-associated single-nucleotide polymorphisms using linkage disequilibrium, disease similarity, and 1000 Genomes Project datasets with evidence-based validation [0.03%]
基于证据验证利用连锁不平衡疾病相似性及千人基因组计划数据预测与疾病相关单核苷酸多态性的DisSNPNet方法
Duc-Hau Le
Duc-Hau Le
Identifying disease-associated single-nucleotide polymorphisms (SNPs) is fundamental to understanding complex disease genetics, yet genome-wide association studies (GWAS) remain costly and data-intensive. Network-based approaches provide a ...
Optimization of DADA2 in QIIME2 for improving fidelity in 16S rRNA V4 amplicon data analysis [0.03%]
QIIME 2中DADA2的优化以提高16S rRNA V4扩增子数据分析的准确性
Moirangthem Goutam Singh,Romi Wahengbam
Moirangthem Goutam Singh
High-throughput sequencing generates vast data, often containing low-quality bases, chimeras, and artifacts that can mislead taxonomic classification and diversity assessments. Divisive amplicon denoising algorithm 2 (DADA2) enhances taxono...
Assessment of HIF2α mutational pathogenicity using microscale thermophoresis [0.03%]
利用微量热泳技术评估HIF2α突变的致病性
Fraser G Ferens,Cassandra C Taber,Jeffrey J Eo et al.
Fraser G Ferens et al.
Pacak-Zhuang syndrome is an emerging pseudohypoxic disorder that causes defined but varied manifestations of neuroendocrine tumours with or without polycythemia or exclusively polycythemia. This disease is caused by mutations in the EPAS1 g...
SOLVE: A structured orthogonal latent variable framework for disentangling confounding in matrix data [0.03%]
SOLVE：矩阵数据中解开混杂因素的结构正交潜在变量框架
Jialai She,Gil Alterovitz
Jialai She
Latent factor models are valuable in bioinformatics for accounting for unmeasured variation alongside observed covariates. Yet many methods struggle to separate known effects from latent structure and to handle losses beyond standard regres...