Whole-genome sequencing reveals rare and structural variants contributing to psoriasis and identifies CERCAM as a risk gene [0.03%]
全基因组测序揭示了罕见和结构变异对银屑病的致病作用并鉴定出易感基因CERCAM
Kyuto Sonehara,Rei Watanabe,Yutaka Matsumura et al.
Kyuto Sonehara et al.
Psoriasis vulgaris (PsV) is an immune-mediated inflammatory skin disorder with complex genetic architecture. Most genome-wide association studies (GWASs) of PsV have been limited to analyzing common single-nucleotide variants in Europeans, ...
Structural variation, selection, and diversification of the NPIP gene family from the human pangenome [0.03%]
人类泛基因组中NPIP基因家族的结构变异、选择和多样化
Philip C Dishuck,Katherine M Munson,Alexandra P Lewis et al.
Philip C Dishuck et al.
The NPIP gene family is among the most positively selected gene families in humans/apes and drives independent duplication in primate lineages. These duplications promote genetic instability, leading to recurrent disease-associated microdup...
LINE-1 retrotransposons mediate cis-acting transcriptional control in human pluripotent stem cells and regulate early brain development [0.03%]
LINE-1长末端重复序列通过编码的反式作用因子调节人多能干细胞中的顺式转录作用并调控早期大脑发育
Anita Adami,Raquel Garza,Patricia Gerdes et al.
Anita Adami et al.
Long interspersed nuclear element 1 (L1) retrotransposons represent a vast source of genetic variability. However, mechanistic analysis of whether and how L1s contribute to human developmental programs is lacking, in part due to the challen...
Amanda Momenzadeh,Jesse G Meyer
Amanda Momenzadeh
Over the past 2 to 3 years, mass-spectrometry-based single-cell proteomics (SCP) has experienced transformative improvements in microfluidic and robotic sample preparation, innovative MS1- and MS2-based multiplexing strategies, and speciali...
The genomic history of East Asian Middle Neolithic millet- and rice-agricultural populations [0.03%]
东亚中原新石器时代粟(小米)-稻农业人群的基因组历史研究
Jianxue Xiong,Yu Xu,Guoke Chen et al.
Jianxue Xiong et al.
The Yellow and Yangtze river basins in China are among the world's oldest independent agricultural centers, known for the domestication of millet and rice, respectively, yet their genetic history is poorly understood. Here, we present genom...
Urine cf-nucleosomes: A non-invasive window into human physiology and disease [0.03%]
尿液cf-核小体：非侵入式观察人体生理和疾病的新窗口
Matan Lotem,Israa Sharkia,Batia Azria et al.
Matan Lotem et al.
Urine contains fragments of cell-free DNA (cfDNA) that offer molecular insights into processes within the urinary system and the body. It remains unclear whether these fragments exist as chromatin and retain chromatin modifications from the...
Take the bull by the horns: A computational framework to predict lncRNA function [0.03%]
抓住牛角：预测长链非编码 RNA (lncRNA) 功能的计算框架
Amit Felach,Assaf C Bester
Amit Felach
In this issue of Cell Genomics, Chiu et al.1 present a new framework, "BigHorn," to predict lncRNA chromatin interactions and show that it can be used to predict lncRNA function. Felach and Bester discuss the findings in this preview articl...
David Gfeller
David Gfeller
Accurate TCR-epitope interaction predictions have the potential to unlock the use of TCR repertoires for diagnostics, TCR discovery, and cross-reactivity predictions. In this issue of Cell Genomics, Drost et al.1 developed a streamlined fra...
Ander Díaz-Navarro,Xindi Zhang,Wei Jiao et al.
Ander Díaz-Navarro et al.
Understanding how genomic alterations drive cancer is key to advancing precision oncology. To detect these alterations, accurate algorithms are used; however, due to privacy concerns, few deeply sequenced cancer genomes can be shared, limit...
The circulating cell-free DNA landscape in sepsis is dominated by impaired liver clearance [0.03%]
脓毒症中循环细胞游离DNA景观主要由肝脏清除功能障碍所主导
Kiki Cano-Gamez,Patrick Maclean,Masato Inoue et al.
Kiki Cano-Gamez et al.
Circulating cell-free DNA (cfDNA) is a promising molecular biomarker, but its role in severe infection is unclear. Here, we profile cfDNA from sepsis patients and controls, demonstrating a 41-fold increase during disease. Methylation-based ...