Bingxian Xu,Rosemary Braun
Bingxian Xu
Whole genome sequence analysis of pulmonary function and COPD in 44,287 multi-ancestry participants [0.03%]
基于全基因组序列的肺功能和慢性阻塞性肺疾病的多祖先队列研究（共计44287人）
Wonji Kim,Xiaowei Hu,Kangjin Kim et al.
Wonji Kim et al.
Background: Whole genome sequence (WGS) data in multi-ancestry samples supports discovery of low-frequency or population-specific genetic variants associated with chronic obstructive pulmonary disease (COPD) and lung func...
O-GlcNAcylation of NONO mediates alternative splicing of SETMAR and facilitates NHEJ repair [0.03%]
O-GlcNAc修饰的NONO介导了SETMAR的选择性剪接并促进NHEJ修复
Mengyuan Li,Huanna Tian,Ziyi Zhou et al.
Mengyuan Li et al.
Background: The NONO protein plays a crucial role in RNA metabolism and DNA repair. It undergoes various post-translational modifications, including phosphorylation, ubiquitination, acetylation and methylation, all of whi...
SARS-CoV-2 wastewater genomic surveillance: approaches, challenges, and opportunities [0.03%]
污水冠状病毒基因组监测：方法、挑战和机遇
Viorel Munteanu,Michael A Saldana,David Dreifuss et al.
Viorel Munteanu et al.
Wastewater-based genomic surveillance (WWGS) has proven effective for monitoring SARS-CoV-2 and other viruses within communities. It enables rapid detection of known and emerging mutations and provides insights into circulating lineages. De...
A technical comparison of spatial transcriptomics platforms across six cancer types [0.03%]
六大类癌症的空间转录组平台的技术比较
Sergi Cervilla,Daniela Grases,Elena Perez et al.
Sergi Cervilla et al.
Background: Spatial transcriptomics (ST) technologies are reshaping our understanding of tissue organization and cellular context in health and disease. However, technical benchmarking across platforms remains limited, pa...
baal-nf identifies motif-disrupting variants that decrease transcription factor binding affinity [0.03%]
Baal-nf鉴定破坏基序以降低转录因子结合亲和力的变异体
Breeshey Roskams-Hieter,Øyvind Almelid,Chris P Ponting
Breeshey Roskams-Hieter
Human traits vary in part due to genetically-determined change of transcription factor binding affinity within gene regulatory regions. However, few trait-causal variants or mechanisms are known. Here we propose 1,935 variants as strong can...
SDrecall: a sensitive approach for variant detection in segmental duplications [0.03%]
SDrecall：段落重复区域内变异检测的高敏感性方法
Xing Tian Yang,Chun Hing She,CaiCai Zhang et al.
Xing Tian Yang et al.
Variant calling in segmental duplications is challenging for short-read sequencing because of ambiguous read origins. We present SDrecall, a method for sensitive variant detection in these regions. Upon constructing a network of homologous ...
Differential expression analysis for spatially correlated data using smiDE [0.03%]
基于smiDE的空间相关数据差异表达分析方法
Ana Gabriela Vasconcelos,Daniel McGuire,Noah Simon et al.
Ana Gabriela Vasconcelos et al.
Differential expression is a key application of imaging spatial transcriptomics, moving analysis beyond cell type localization to examining cell state responses to microenvironments. However, spatial data poses new challenges to differentia...
Cross-species prediction of histone modifications in plants via deep learning [0.03%]
基于深度学习的植物组蛋白修饰跨物种预测
Tongxuan Lv,Quan Han,Yilin Li et al.
Tongxuan Lv et al.
Background: The regulation of gene expression in plants is governed by complex interactions between cis-regulatory elements and epigenetic modifications such as histone marks. While deep learning models have achieved succ...
Shiron Drusinsky,Sean Whalen,Katherine S Pollard
Shiron Drusinsky
Background: Models that predict gene expression levels from DNA sequence struggle to predict differences between individuals when given their personal genome sequences. These models are generally trained on reference geno...