Results 91 to 100 of about 237,110 (353)

Wessim: a whole-exome sequencing simulator based on in silico exome capture [PDF]

Bioinformatics, 2013
Abstract Summary: We propose a targeted re-sequencing simulator Wessim that generates synthetic exome sequencing reads from a given sample genome. Wessim emulates conventional exome capture technologies, including Agilent’s SureSelect and NimbleGen’s SeqCap, to generate DNA fragments from genomic target regions. The target regions can be
Sangwoo, Kim, Kyowon, Jeong, Vineet, Bafna   +2 more
openaire   +3 more sources

Integrated Transcriptomics Reveals Evolutionary Trajectories and Cell Density‐Dependent Mechanisms in Aldosterone‐Producing Adenomas

Advanced Science, EarlyView.
Aldosterone‐producing adenomas (APAs) develop via two distinct paths: directly from adrenal zona glomerulosa (zG) cells, or stepwise from zG cells through aldosterone‐producing micronodules (APMs) before progressing to APAs. Advanced single‐cell and spatial analyses identified distinct cell states linked to oxidative stress and cell–cell interactions ...
Zhuolun Sun, Changying Jing, Martina Tetti, Siyuan Gong, Jia Wei, Yingxian Pang, Martin Reincke, Tracy Ann Williams   +7 more
wiley   +1 more source

Consensus Genotyper for Exome Sequencing (CGES): improving the quality of exome variant genotypes [PDF]

Bioinformatics, 2014
Abstract Motivation : The development of cost-effective next-generation sequencing methods has spurred the development of high-throughput bioinformatics tools for detection of sequence variation. With many disparate variant-calling algorithms available, investigators must ask, ‘Which method is best for my data?’ Machine learning research
Vassily, Trubetskoy, Alex, Rodriguez, Uptal, Dave, Nicholas, Campbell, Emily L, Crawford, Edwin H, Cook, James S, Sutcliffe, Ian, Foster, Ravi, Madduri, Nancy J, Cox, Lea K, Davis   +10 more
openaire   +2 more sources

The Tumor‐to‐Endothelial Transfer of FTO Promotes Vascular Remodeling and Metastasis in Nasopharyngeal Carcinoma

Advanced Science, EarlyView.
Integrated omics analysis of matched primary and liver metastatic NPC tumors reveals a unique NOTCH1+ CSC subpopulation exhibiting enhanced stemness properties and tumorigenic capacity. With in vitro and in vivo assays, exosomal transfer of tumor‐derived FTO from NOTCH1+ cells to the endothelium promotes vascular permeability and metastatic potential ...
Chun Wu, Xuefei Liu, Liwen Gu, Jingru Lian, Yuting Wang, Yixin Cheng, Lianhui Duan, Guanyin Huang, Siqi Chen, Boxi Zhao, Sailan Liu, Yufan Yang, Shuqian Zheng, Zijian Lu, Wanping Guo, Jianyang Hu, Wenjing Wang, Zhixiang Zuo, Haiqiang Mai, LinQuan Tang, Songfa Zhang, Feiqiu Wen, Xin Hong, Ling Guo   +23 more
wiley   +1 more source

The Importance of Prenatal Whole-Exome Sequencing Testing in the Romanian Population

Journal of Mind and Medical Sciences
One major cause of prenatal mortality and morbidity is congenital abnormalities. Knowing the prevalence and etiology of congenital malformations is essential for analyzing trends and improving neonatal care.
Ileana-Delia Săbău, Laurentiu-Camil Bohîltea, Viorica Elena Rădoi, Anca Mirela Bardan, Ovidiu Virgil Maioru, Mihaela Țurcan, Viorel Aurel Suciu-Lazar, Iuliana Ceausu   +7 more
doaj   +1 more source

Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD. [PDF]

, 2015
Purpose3-Methylcrotonyl-CoA carboxylase deficiency (MCCD) is an autosomal recessive disorder of leucine catabolism that has a highly variable clinical phenotype, ranging from acute metabolic acidosis to nonspecific symptoms such as developmental delay ...
Barshop, Bruce A, Baumgartner, Matthias R, Frazer, Kelly A, Hansen, John-Bjarne, Jepsen, Kristen, Shepard, Peter J, Smith, Erin N   +6 more
core   +1 more source

Homozygosity Haplotype and Whole-Exome Sequencing Analysis to Identify Potentially Functional Rare Variants Involved in Multiple Sclerosis among Sardinian Families [PDF]

, 2021
Teresa Fazia, Daria Marzanati, Anna Laura Carotenuto, Ashley Beecham, Athena Hadjixenofontos, Jacob L. McCauley, Valeria Saddi, Marialuisa Piras, Luisa Bernardinelli, Davide Gentilini   +9 more
openalex   +1 more source

PARPi Combining Nanoparticle LIN28B siRNA for the Management of Malignant Ascites

Advanced Science, EarlyView.
This study demonstrates that co‐inhibition of LIN28B and PARP using siLin28b/DSSP@lip‐PEG‐FA nanoparticles in combination with the PARP inhibitor BMN673 effectively suppresses the accumulation of malignant ascites associated with advanced cancers.
Yan Fang, Qian Shen, Yao Lin, Jing Zhu, Xiaolan Zhu, Rui Huang, Yijia Wu, Feiyang Shen, Qian Li, Guopei Zheng, Zhe Zhang, Qian Chu, Junhao Hu, Jianfeng Shen   +13 more
wiley   +1 more source

SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts [PDF]

, 2017
Acknowledgements We sincerely thank the patients and family members who participated in this study. We would also like to thank Stefan Esher, Umeå University, for help with genealogy, and Anna Westerlund for excellent technical assistance.
Ameur, Adam, Coxon, Fraser P., Dahl, Niklas, Hallmans, Göran, Helfrich, Miep H., Henning, Petra, Kellgren, Therese G., Klar, Joakim, Lerner, Ulf H., Lönnerholm, Torsten, McDermott, Emma, Rydén, Patrik, Sandström, Per-Erik, Stattin, Eva-Lena, Stecksen-Blicks, Christina, Wikström, Johan   +15 more
core   +1 more source

A genome-wide case-only test for the detection of digenic inheritance in human exomes [PDF]

, 2020
Gaspard Kerner, Matthieu Bouaziz, Aurélie Cobat, Benedetta Bigio, Andrew T. Timberlake, Jacinta Bustamante, Richard P. Lifton, Jean‐Laurent Casanova, Laurent Abel   +8 more
openalex   +1 more source