Identifying and correcting repeat-calling errors in nanopore sequencing of telomeres [0.03%]
纳米孔测序中端粒重复序列识别与纠正错误的方法研究
Kar-Tong Tan,Michael K Slevin,Matthew Meyerson et al.
Kar-Tong Tan et al.
Nanopore long-read sequencing is an emerging approach for studying genomes, including long repetitive elements like telomeres. Here, we report extensive basecalling induced errors at telomere repeats across nanopore datasets, sequencing pla...
What puzzle are you in? [0.03%]
你的人生命题是什么？
Itai Yanai,Martin J Lercher
Itai Yanai
Songtao Gui,Wenjie Wei,Chenglin Jiang et al.
Songtao Gui et al.
Background: Maize (Zea mays L.) is at the vanguard facing the upcoming breeding challenges. However, both a super pan-genome for the Zea genus and a comprehensive genetic variation map for maize breeding are still lacking...
Human dyskerin binds to cytoplasmic H/ACA-box-containing transcripts affecting nuclear hormone receptor dependence [0.03%]
人dyskerin与胞质H/ACA盒含服的转录本结合并影响核激素受体依赖性
Federico Zacchini,Giulia Venturi,Veronica De Sanctis et al.
Federico Zacchini et al.
Background: Dyskerin is a nuclear protein involved in H/ACA box snoRNA-guided uridine modification of RNA. In humans, its defective function is associated with cancer development and induces specific post-transcriptional ...
Yuelin Yao,Shuli Liu,Charley Xia et al.
Yuelin Yao et al.
Background: Cross-species comparison of transcriptomes is important for elucidating evolutionary molecular mechanisms underpinning phenotypic variation between and within species, yet to date it has been essentially limit...
PerSVade: personalized structural variant detection in any species of interest [0.03%]
PerSVade：在任何感兴趣的物种中进行个性化结构变异检测
Miquel Àngel Schikora-Tamarit,Toni Gabaldón
Miquel Àngel Schikora-Tamarit
Structural variants (SVs) underlie genomic variation but are often overlooked due to difficult detection from short reads. Most algorithms have been tested on humans, and it remains unclear how applicable they are in other organisms. To sol...
BindVAE: Dirichlet variational autoencoders for de novo motif discovery from accessible chromatin [0.03%]
_bindvae：用于从可访问染色质中首次识别基序的dirichlet变分自动编码器
Meghana Kshirsagar,Han Yuan,Juan Lavista Ferres et al.
Meghana Kshirsagar et al.
We present a novel unsupervised deep learning approach called BindVAE, based on Dirichlet variational autoencoders, for jointly decoding multiple TF binding signals from open chromatin regions. BindVAE can disentangle an input DNA sequence ...
Single-cell diploid Hi-C reveals the role of spatial aggregations in complex rearrangements and KMT2A fusions in leukemia [0.03%]
单倍体单细胞Hi-C揭示了空间聚集在白血病复杂重排和KMT2A融合中的作用
Zhihao Xing,Huirong Mai,Xiaorong Liu et al.
Zhihao Xing et al.
Background: Simple translocations and complex rearrangements are formed through illegitimate ligations of double-strand breaks of fusion partners and lead to generation of oncogenic fusion genes that affect cellular funct...
The recombination landscape of the Khoe-San likely represents the upper limits of recombination divergence in humans [0.03%]
科伊桑人的重组图谱可能代表了人类的重组分歧上限
Gerald van Eeden,Caitlin Uren,Evlyn Pless et al.
Gerald van Eeden et al.
Background: Recombination maps are important resources for epidemiological and evolutionary analyses; however, there are currently no recombination maps representing any African population outside of those with West Afric...
Balanced mitochondrial and cytosolic translatomes underlie the biogenesis of human respiratory complexes [0.03%]
平衡的线粒体和胞浆转录组构成人类呼吸链复合物的生物发生机制
Iliana Soto,Mary Couvillion,Katja G Hansen et al.
Iliana Soto et al.
Background: Oxidative phosphorylation (OXPHOS) complexes consist of nuclear and mitochondrial DNA-encoded subunits. Their biogenesis requires cross-compartment gene regulation to mitigate the accumulation of disproportion...