LongTR: genome-wide profiling of genetic variation at tandem repeats from long reads [0.03%]
长读取基因组范围内的串联重复序列遗传变异分析（LongTR）
Helyaneh Ziaei Jam,Justin M Zook,Sara Javadzadeh et al.
Helyaneh Ziaei Jam et al.
Tandem repeats are frequent across the human genome, and variation in repeat length has been linked to a variety of traits. Recent improvements in long read sequencing technologies have the potential to greatly improve tandem repeat analysi...
Gut microbiota DPP4-like enzymes are increased in type-2 diabetes and contribute to incretin inactivation [0.03%]
2型糖尿病患者肠道微生物DPP4-like酶活性增强并参与肠促胰素失活
Marta Olivares,Paula Hernández-Calderón,Sonia Cárdenas-Brito et al.
Marta Olivares et al.
Background: The gut microbiota controls broad aspects of human metabolism and feeding behavior, but the basis for this control remains largely unclear. Given the key role of human dipeptidyl peptidase 4 (DPP4) in host met...
SETDB1 regulates short interspersed nuclear elements and chromatin loop organization in mouse neural precursor cells [0.03%]
SETDB1调节小鼠神经前体细胞中的短散在核元件和染色质环结构
Daijing Sun,Yueyan Zhu,Wenzhu Peng et al.
Daijing Sun et al.
Background: Transposable elements play a critical role in maintaining genome architecture during neurodevelopment. Short Interspersed Nuclear Elements (SINEs), a major subtype of transposable elements, are known to harbor...
Heterogeneous pseudobulk simulation enables realistic benchmarking of cell-type deconvolution methods [0.03%]
异质性伪总量模拟能够实现细胞类型去卷积方法的现实基准测试
Mengying Hu,Maria Chikina
Mengying Hu
Background: Computational cell type deconvolution enables the estimation of cell type abundance from bulk tissues and is important for understanding tissue microenviroment, especially in tumor tissues. With rapid developm...
Detecting haplotype-specific transcript variation in long reads with FLAIR2 [0.03%]
基于长读段检测单倍型特异性转录本变异的FLAIR2工具
Alison D Tang,Colette Felton,Eva Hrabeta-Robinson et al.
Alison D Tang et al.
Background: RNA-seq has brought forth significant discoveries regarding aberrations in RNA processing, implicating these RNA variants in a variety of diseases. Aberrant splicing and single nucleotide variants (SNVs) in RN...
Benchmarking computational variant effect predictors by their ability to infer human traits [0.03%]
通过计算变异效应预测器推断人类表型的能力对其评估建标
Daniel R Tabet,Da Kuang,Megan C Lancaster et al.
Daniel R Tabet et al.
Background: Computational variant effect predictors offer a scalable and increasingly reliable means of interpreting human genetic variation, but concerns of circularity and bias have limited previous methods for evaluati...
Tagging large CNV blocks in wheat boosts digitalization of germplasm resources by ultra-low-coverage sequencing [0.03%]
低覆盖度测序鉴定的大规模小麦CNV位点助力种质资源的数字化标记
Jianxia Niu,Wenxi Wang,Zihao Wang et al.
Jianxia Niu et al.
Background: The massive structural variations and frequent introgression highly contribute to the genetic diversity of wheat, while the huge and complex genome of polyploid wheat hinders efficient genotyping of abundant v...
RIBAP: a comprehensive bacterial core genome annotation pipeline for pangenome calculation beyond the species level [0.03%]
一种用于物种水平以上的细菌核心基因组注释和泛基因组计算的综合管道(RIBAP)
Kevin Lamkiewicz,Lisa-Marie Barf,Konrad Sachse et al.
Kevin Lamkiewicz et al.
Microbial pangenome analysis identifies present or absent genes in prokaryotic genomes. However, current tools are limited when analyzing species with higher sequence diversity or higher taxonomic orders such as genera or families. The Roar...
Resolving intra-repeat variation in medically relevant VNTRs from short-read sequencing data using the cardiovascular risk gene LPA as a model [0.03%]
以心血管风险基因LPA为例从短读长测序数据中解析医学相关VNTR中的重复序列内变异
Silvia Di Maio,Peter Zöscher,Hansi Weissensteiner et al.
Silvia Di Maio et al.
Background: Variable number tandem repeats (VNTRs) are highly polymorphic DNA regions harboring many potentially disease-causing variants. However, VNTRs often appear unresolved ("dark") in variation databases due to thei...
Immune evasion impacts the landscape of driver genes during cancer evolution [0.03%]
免疫逃逸在癌症进化过程中会影响驱动基因的图谱
Lucie Gourmet,Andrea Sottoriva,Simon Walker-Samuel et al.
Lucie Gourmet et al.
Background: Carcinogenesis is driven by interactions between genetic mutations and the local tumor microenvironment. Recent research has identified hundreds of cancer driver genes; however, these studies often include a m...