Results 111 to 120 of about 256,500 (196)

Cancer‐Like Fragmentomic Characteristics of Somatic Variants in Cell‐Free DNA

Advanced Science, EarlyView.
We report that in non‐cancerous subjects, cell‐free (cfDNA) molecules harboring somatic variants exhibit cancer‐like fragmentomic characteristics associated with clonal hematopoiesis. Importantly, these somatic variant‐associated fragmentomic aberrations are more pronounced in cancer patients. Leveraging such somatic variant‐associated signals in cfDNA,
Zhenyu Zhang, Yunyun An, Mengqi Yang, Yuqi Pan, Xiaoyi Liu, Fanglei Gong, Huizhen Lin, Bianbian Tang, Yunxia Bai, Xin Zhao, Yu Zhao, Changzheng Du, Kun Sun   +12 more
wiley   +1 more source

Whole-genome paternal uniparental disomy identified through prenatal single-nucleotide polymorphism-based cell-free DNA screening. [PDF]

Ultrasound Obstet Gynecol
Benn P, Hashimoto K, Souter V, Dhamankar R, Xu W, Kijacic D.   +5 more
europepmc   +1 more source

NuSAP Safeguards Centriole Integrity to Mediate CEP57‐CEP152 Torus Recruitment for Proper Engagement

Advanced Science, EarlyView.
This study reveals a novel role for the microtubule stabilizer NuSAP at centrioles. NuSAP depletion destabilizes the centriole's tubulin structure, causing premature disengagement, PCM defects, and mis‐localization of the CEP57‐CEP63‐CEP152 complex. By reinforcing centriole architecture, NuSAP enables early CEP57 loading and initiates a newly proposed ...
Shiyu Zhang, Zemin Jiang, Qiaoyun Yang, Hong Zheng, Minghao Wang, Chennianci Zhu, Lih‐Wen Deng, Karen Carmelina Crasta, Yih‐Cherng Liou   +8 more
wiley   +1 more source

Human selection maintains karyotype integrity of highly unstable genomic cultivated autotetraploid potato (<i>Solanum tuberosum</i>). [PDF]

Sci Adv
Yang L, Bai Y, Chao G, Zhao K, Xu J, Sun M, Zhang H, Niu Y, Li K, Xiong Z, Cao Y, Wang F, Hai B, Cao C, Yin Y, Lin T, Wang Y, Gong X, Wu L, Jiang J, Xiong Z.   +20 more
europepmc   +1 more source

Meta‐GWAS of Pig Semen Quality Traits Reveals Conserved Genes Regulating Mammalian Fertility

Advanced Science, EarlyView.
This study incorporated 14 210 individuals to perform a GWAS meta‐analysis of six semen quality traits. The GWAS meta‐analysis identifies 234 GWAS loci associated with semen quality traits. The incorporation with a functional genomics resource explains potential genetic regulation of ∼40% GWAS signals underlying semen quality traits.
Qing Lin, Xiaodian Cai, Zhanming Zhong, Tingting Li, Xinyou Chen, Wondossen Ayalew, Zhiting Xu, Chen Wei, Xiaoke Zhang, Hong Cheng, Zhenyang Zhang, Xuehua Li, Yongjie Tang, Siqian Chen, Jun Zhou, Jinglei Si, Xibo Wu, Chao Ning, Qishan Wang, Yuchun Pan, Yahui Gao, Jiaqi Li, Ying Yu, Zhe Zhang, Yunxiang Zhao, Lingzhao Fang, Zhe Zhang   +26 more
wiley   +1 more source

Evaluation of the efficacy of optical genome mapping in prenatal diagnosis: a retrospective cohort study. [PDF]

J Transl Med
Yin K, Lü Y, Zhang H, Li M, Chang J, Yang X, Qi Q, Zhou X, Guo J, Wang Y, Wang C, Li W, Hao N, Jiang Y.   +13 more
europepmc   +1 more source

FISH of Alu-PCR amplified YAC clones and applications in tumor cytogenetics [PDF]

, 1994
Choo, K. H. A., Cremer, Thomas, Lengauer, Christoph, Speicher, Michael R.   +3 more
core  

Reference‐Guided Chromosome‐by‐Chromosome de novo Assembly at Scale Using Low‐Coverage High‐Fidelity Long‐Reads with HiFiCCL

Advanced Science, EarlyView.
HiFiCCL, as the first assembly framework specifically designed for low‐coverage high‐fidelity reads, improves the assembly quality of existing assemblers and also enhances downstream applications such as large structural variant (SV) detection (>10 000 bp), synteny analysis, pangenome graph construction, and graph‐based individual‐specific germline SVs
Zhongjun Jiang, Weihua Pan, Runtian Gao, Heng Hu, Wentao Gao, Murong Zhou, Yu‐Hang Yin, Zhipeng Qian, Shuilin Jin, Guohua Wang   +9 more
wiley   +1 more source

High-Resolution Assembly of the Human Y Chromosome Identifies a Vast Landscape of Inverted Repeats Associated with Structural and Functional Genomic Features. [PDF]

Int J Mol Sci
Dobrovolná M, Bowater RP, Pečinka P, Brázda V, Bartas M.   +4 more
europepmc   +1 more source

Human ribonuclease H1 resolves R-loops and thereby enables progression of the DNA replication fork [PDF]

, 2017
Jackson, Jessica, Murali, Bhavna, Parajuli, Shankar, Stewart, Sheila A., Teasley, Daniel C., Vindigni, Alessandro   +5 more
core   +2 more sources