Large-scale analysis of de novo mutations identifies risk genes for female infertility characterized by oocyte and early embryo defects [0.03%]
大规模的从头突变分析鉴定出卵巢卵母细胞和早期胚胎缺陷导致的女性不孕风险基因
Qun Li,Lin Zhao,Yang Zeng et al.
Qun Li et al.
Background: Oocyte maturation arrest and early embryonic arrest are important reproductive phenotypes resulting in female infertility and cause the recurrent failure of assisted reproductive technology (ART). However, the...
FIPRESCI: droplet microfluidics based combinatorial indexing for massive-scale 5'-end single-cell RNA sequencing [0.03%]
基于微流体的组合索引技术进行大规模单细胞RNA测序
Yun Li,Zheng Huang,Zhaojun Zhang et al.
Yun Li et al.
Single-cell RNA sequencing methods focusing on the 5'-end of transcripts can reveal promoter and enhancer activity and efficiently profile immune receptor repertoire. However, ultra-high-throughput 5'-end single-cell RNA sequencing methods ...
Flexible and efficient handling of nanopore sequencing signal data with slow5tools [0.03%]
使用slow5tools灵活高效地处理纳米孔测序信号数据
Hiruna Samarakoon,James M Ferguson,Sasha P Jenner et al.
Hiruna Samarakoon et al.
Nanopore sequencing is being rapidly adopted in genomics. We recently developed SLOW5, a new file format with advantages for storage and analysis of raw signal data from nanopore experiments. Here we introduce slow5tools, an intuitive toolk...
Reading and writing of mRNA m6A modification orchestrate maternal-to-zygotic transition in mice [0.03%]
阅读和写作mRNA m6A修饰调控小鼠从卵母细胞到合子的过渡
Wencheng Zhu,Yufeng Ding,Juan Meng et al.
Wencheng Zhu et al.
N6-methyladenosine (m6A) modification has been shown to regulate RNA metabolism. Here, we investigate m6A dynamics during maternal-to-zygotic transition (MZT) in mice through multi-omic analysis. Our results show that m6A can be maternally ...
Asymmetric gene expression and cell-type-specific regulatory networks in the root of bread wheat revealed by single-cell multiomics analysis [0.03%]
单细胞多组学分析揭示了面包小麦根中不对称基因表达和细胞类型特异性调控网络
Lihua Zhang,Chao He,Yuting Lai et al.
Lihua Zhang et al.
Background: Homoeologs are defined as homologous genes resulting from allopolyploidy. Bread wheat, Triticum aestivum, is an allohexaploid species with many homoeologs. Homoeolog expression bias, referring to the relative ...
NSD2 E1099K drives relapse in pediatric acute lymphoblastic leukemia by disrupting 3D chromatin organization [0.03%]
NSD2 E1099K通过破坏三维染色质组织驱动儿童急性淋巴细胞白血病复发
Sonali Narang,Nikki A Evensen,Jason Saliba et al.
Sonali Narang et al.
Background: The NSD2 p.E1099K (EK) mutation is shown to be enriched in patients with relapsed acute lymphoblastic leukemia (ALL), indicating a role in clonal evolution and drug resistance. ...
TrEMOLO: accurate transposable element allele frequency estimation using long-read sequencing data combining assembly and mapping-based approaches [0.03%]
基于长读测序数据的转座元件等位基因频率估计方法TrEMOLO：结合组装和映射的方法
Mourdas Mohamed,François Sabot,Marion Varoqui et al.
Mourdas Mohamed et al.
Transposable Element MOnitoring with LOng-reads (TrEMOLO) is a new software that combines assembly- and mapping-based approaches to robustly detect genetic elements called transposable elements (TEs). Using high- or low-quality genome assem...
BIND&MODIFY: a long-range method for single-molecule mapping of chromatin modifications in eukaryotes [0.03%]
黏附与修饰：用于原核生物染色质修饰单分子图谱的长读长方法
Zhe Weng,Fengying Ruan,Weitian Chen et al.
Zhe Weng et al.
Epigenetic modifications of histones are associated with development and pathogenesis of disease. Existing approaches cannot provide insights into long-range interactions and represent the average chromatin state. Here we describe BIND&MODI...
CRISPR screens identify gene targets at breast cancer risk loci [0.03%]
运用 CRISPR 筛选技术在乳腺癌风险区域寻找基因靶点
Natasha K Tuano,Jonathan Beesley,Murray Manning et al.
Natasha K Tuano et al.
Background: Genome-wide association studies (GWAS) have identified > 200 loci associated with breast cancer risk. The majority of candidate causal variants are in non-coding regions and likely modulate cancer risk by regu...
Helena L Crowell,Sarah X Morillo Leonardo,Charlotte Soneson et al.
Helena L Crowell et al.
Background: With the emergence of hundreds of single-cell RNA-sequencing (scRNA-seq) datasets, the number of computational tools to analyze aspects of the generated data has grown rapidly. As a result, there is a recurrin...