Uncovering dark mass in population proteomics: Pan-analysis of single amino acid polymorphism relevant to cognition and aging [0.03%]
揭示人群蛋白质组中的暗质谱：单氨基酸多态性的全分析及其与认知和衰老的关系
Xiaojing Gao,Yuanyuan Yin,Yiqian Chen et al.
Xiaojing Gao et al.
Human proteome data across populations have been analyzed extensively to reveal protein quantitative associations with physiological or pathological states, while the single amino acid polymorphism (SAP) has been rarely investigated. In thi...
A multi-modal transformer for cell type-agnostic regulatory predictions [0.03%]
一种用于细胞类型无关的调控预测的多模态变换器
Nauman Javed,Thomas Weingarten,Arijit Sehanobish et al.
Nauman Javed et al.
Sequence-based deep learning models have emerged as powerful tools for deciphering the cis-regulatory grammar of the human genome but cannot generalize to unobserved cellular contexts. Here, we present EpiBERT, a multi-modal transformer tha...
Chromosome-scale genome assembly reveals how repeat elements shape non-coding RNA landscapes active during newt limb regeneration [0.03%]
染色体水平的基因组组装揭示了重复元件如何塑造新肢再生过程中活跃的非编码RNA景观
Thomas Brown,Ketan Mishra,Ahmed Elewa et al.
Thomas Brown et al.
Newts have large genomes harboring many repeat elements. How these elements shape the genome and relate to newts' unique regeneration ability remains unknown. We present here the chromosome-scale assembly of the 20.3 Gb genome of the Iberia...
Tracing human trait evolution through integrative genomics and temporal annotations [0.03%]
通过整合基因组学和时间注释追踪人类性状进化
Jian Zeng
Jian Zeng
Understanding the evolution of human traits is a fundamental yet challenging question. In a recent Cell Genomics article, Kun et al.1 integrate large-scale genomic and phenotypic data, including deep-learning-derived imaging phenotypes, wit...
Single-cell DNA sequencing reveals pervasive positive selection throughout preleukemic evolution [0.03%]
单细胞DNA测序揭示了在整个白血病前期的演化过程中普遍存在正向选择
Gladys Poon,Aditi Vedi,Mathijs Sanders et al.
Gladys Poon et al.
The representation of driver mutations in preleukemic hematopoietic stem cells (pHSCs) provides a window into the somatic evolution that precedes acute myeloid leukemia (AML). Here, we isolate pHSCs from the bone marrow of 16 patients diagn...
Genetic mapping of serum metabolome to chronic diseases among Han Chinese [0.03%]
汉族人群血清代谢物的基因定位及其与慢性疾病的关系
Chunxiao Cheng,Fengzhe Xu,Xiong-Fei Pan et al.
Chunxiao Cheng et al.
Serum metabolites are potential regulators for chronic diseases. To explore the genetic regulation of metabolites and their roles in chronic diseases, we quantified 2,759 serum metabolites and performed genome-wide association studies (GWAS...
Response eQTLs, chromatin accessibility, and 3D chromatin structure in chondrocytes provide mechanistic insight into osteoarthritis risk [0.03%]
响应eQTLs、软骨细胞染色质可及性和三维染色质结构为 osteoarthritis风险提供机制见解
Nicole E Kramer,Seyoun Byun,Philip Coryell et al.
Nicole E Kramer et al.
Osteoarthritis (OA) poses a significant healthcare burden with limited treatment options. While genome-wide association studies (GWASs) have identified over 100 OA-associated loci, translating these findings into therapeutic targets remains...
The trait-specific timing of accelerated genomic change in the human lineage [0.03%]
人类谱系中特异性状加速基因组变化的时期
Eucharist Kun,Mashaal Sohail,Vagheesh M Narasimhan
Eucharist Kun
Humans exhibit distinct characteristics compared to our primate and ancient hominin ancestors. To investigate genomic bursts in the evolution of these traits, we use two complementary approaches to examine enrichment among genome-wide assoc...
Single-cell and spatial transcriptomic profiling revealed niche interactions sustaining growth of endometriotic lesions [0.03%]
单细胞和空间转录组分析揭示了内膜异位病灶的生态位相互作用及其生长机制
Song Liu,Xiaoyan Li,Zhiyue Gu et al.
Song Liu et al.
Endometriosis is a chronic condition with limited therapeutic options. The molecular aberrations promoting ectopic attachment and interactions with the local microenvironment sustaining lesion growth have been unclear, prohibiting developme...
Xiaoyue Wang,Jinhua Leng
Xiaoyue Wang
We talk to Xiaoyue Wang and Jinhua Leng, corresponding authors of "Single-cell and spatial transcriptomic profiling revealed niche interactions sustaining growth of endometriotic lesions" in this issue of Cell Genomics, about their research...