David Porubsky,William T Harvey,Allison N Rozanski et al.
David Porubsky et al.
The telomere-to-telomere (T2T) complete human reference has significantly improved our ability to characterize genome structural variation. To understand its impact on inversion polymorphisms, we remapped data from 41 genomes against the T2...
DREAMS: deep read-level error model for sequencing data applied to low-frequency variant calling and circulating tumor DNA detection [0.03%]
针对低频变异检测和循环肿瘤DNA检测的深度测序数据读水平错误模型研究
Mikkel H Christensen,Simon O Drue,Mads H Rasmussen et al.
Mikkel H Christensen et al.
Circulating tumor DNA detection using next-generation sequencing (NGS) data of plasma DNA is promising for cancer identification and characterization. However, the tumor signal in the blood is often low and difficult to distinguish from err...
SNV-FEAST: microbial source tracking with single nucleotide variants [0.03%]
基于单核苷酸变异的微生物源解析工具SNV-FEAST
Leah Briscoe,Eran Halperin,Nandita R Garud
Leah Briscoe
Elucidating the sources of a microbiome can provide insight into the ecological dynamics responsible for the formation of these communities. Source tracking approaches to date leverage species abundance information; however, single nucleoti...
A metabolic perspective of selection for fruit quality related to apple domestication and improvement [0.03%]
从代谢角度探讨苹果育种改良中与果实品质相关的选择作用
Qiong Lin,Jing Chen,Xuan Liu et al.
Qiong Lin et al.
Background: Apple is an economically important fruit crop. Changes in metabolism accompanying human-guided evolution can be revealed using a multiomics approach. We perform genome-wide metabolic analysis of apple fruits c...
MORC proteins regulate transcription factor binding by mediating chromatin compaction in active chromatin regions [0.03%]
MORC蛋白通过介导活性染色质区域的染色质压缩来调节转录因子结合
Zhenhui Zhong,Yan Xue,C Jake Harris et al.
Zhenhui Zhong et al.
Background: The microrchidia (MORC) proteins are a family of evolutionarily conserved GHKL-type ATPases involved in chromatin compaction and gene silencing. Arabidopsis MORC proteins act in the RNA-directed DNA methylatio...
Sarah Gersing,Matteo Cagiada,Marinella Gebbia et al.
Sarah Gersing et al.
Background: Glucokinase (GCK) regulates insulin secretion to maintain appropriate blood glucose levels. Sequence variants can alter GCK activity to cause hyperinsulinemic hypoglycemia or hyperglycemia associated with GCK-...
Identifying yield-related genes in maize based on ear trait plasticity [0.03%]
基于果穗性状可塑性鉴定控制玉米产量相关基因
Minguo Liu,Shuaisong Zhang,Wei Li et al.
Minguo Liu et al.
Background: Phenotypic plasticity is defined as the phenotypic variation of a trait when an organism is exposed to different environments, and it is closely related to genotype. Exploring the genetic basis behind the phen...
A graph neural network-based interpretable framework reveals a novel DNA fragility-associated chromatin structural unit [0.03%]
一种基于图神经网络的可解释框架揭示了新型DNA脆弱性相关的染色质结构单元
Yu Sun,Xiang Xu,Lin Lin et al.
Yu Sun et al.
Background: DNA double-strand breaks (DSBs) are among the most deleterious DNA lesions, and they can cause cancer if improperly repaired. Recent chromosome conformation capture techniques, such as Hi-C, have enabled the i...
Combining different CRISPR nucleases for simultaneous knock-in and base editing prevents translocations in multiplex-edited CAR T cells [0.03%]
结合不同的CRISPR核酸酶可同时实现同源重组敲入和碱基编辑，并防止CAR-T细胞中多基因组编辑造成的易位
Viktor Glaser,Christian Flugel,Jonas Kath et al.
Viktor Glaser et al.
Background: Multiple genetic modifications may be required to develop potent off-the-shelf chimeric antigen receptor (CAR) T cell therapies. Conventional CRISPR-Cas nucleases install sequence-specific DNA double-strand br...
Transformation of alignment files improves performance of variant callers for long-read RNA sequencing data [0.03%]
转换配对文件可提高长读RNA测序数据变异调用工具的性能
Vladimir B C de Souza,Ben T Jordan,Elizabeth Tseng et al.
Vladimir B C de Souza et al.
Long-read RNA sequencing (lrRNA-seq) produces detailed information about full-length transcripts, including novel and sample-specific isoforms. Furthermore, there is an opportunity to call variants directly from lrRNA-seq data. However, mos...