Results 11 to 20 of about 1,088 (126)
Ultrasound in Obstetrics &Gynecology, Volume 60, Issue 4, Page 487-493, October 2022., 2022 ABSTRACT Objective To investigate the diagnostic yield of clinical whole‐genome sequencing (WGS) in prenatally diagnosed non‐immune hydrops fetalis (NIHF). Methods This was a retrospective study of 23 fetuses with prenatally diagnosed NIHF, negative for trisomies and copy‐number variants, referred for analysis by WGS with an in‐silico panel of 281 ...
E. Westenius +4 more
wiley +1 more source
Review of the role of collagen in tumorigenesis and development [PDF]
, 2023 Collagen is one of the most abundant proteins in the body and is the main component of the extracellular matrix. Collagen regulates cellular behavior, and its dysregulation can cause a variety of diseases, including cancer.
TANG Lei, XU Yingchun, ZHANG Fengchun
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Advancements in Single-cell Sequencing and the Prospect of Its Forensic Application [PDF]
, 2019 Single-cell sequencing is a technique that analyzes DNA and RNA sequences on the cellular level with next generation sequencing. The ultra high resolution of single-cell sequencing provides new perspectives and opens new frontiers for our understanding ...
CHEN Man, YANG Ya-ran, WU Hui-juan, et al.
core +1 more source
胃癌中神经纤毛蛋白-1(NRP1)表达及其与肿瘤微环境免疫细胞浸润关系的研究
Zhongguo shiyan zhenduanxue, 2021 目的采用生物信息学分析,探讨神经纤毛蛋白-1(NRP1)在胃癌中的表达与肿瘤免疫微环境中免疫细胞浸润的相关性及其对患者预后的影响。方法应用TIMER数据库分析NRP1在胃癌中的差异性表达,分析NRP1表达与免疫细胞浸润之间的相关性,进一步分析NRP1基因的不同体细胞拷贝数变化与免疫细胞浸润之间的关系,多因素生存分析NRP1表达与肿瘤免疫细胞浸润对胃癌患者预后的影响,最后应用Kaplan-Meier plotter数据库计算不同NRP1表达水平胃癌患者的至第一次进展时间(FP)和总生存期(OS)。结果 ...
张鸿 +5 more
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Allelic Imbalance in Four Tumor Types [PDF]
, 2017 肿瘤是人最主要的致死性疾病，其发生发展过程中均伴随着大量的基因组改变。当同源染色体片段相对于另一条同源染色体的拷贝数增加或减少时，伴随着一个现象的发生，等位基因不平衡。如果被扩增的同源染色体的片段携带着比另一条同源染色体更有利于肿瘤生长的遗传变异位点，则此片段在肿瘤细胞生长过程中有选择性优势。高通量测序技术的快速应用与精准医疗研究的快速发展，产生了海量基因组学数据，现在我们可以较容易且准确的获得整个基因组的完整信息。本研究从一个独特的视角来探究四种高发肿瘤（乳腺腺癌、结直肠腺癌、肺腺癌和前列腺癌 ...
曾园媛
core
, 2021 目的探讨无创胚胎植入前非整倍体筛查（niPGT-A）的诊断有效性。方法收集并再次分析了2018年7月到2019年7月期间，在中山大学附属第六医院生殖医学中心因染色体相互易位，或罗氏易位经首次滋养层细胞（TE）活检（TE1）行植入前，遗传学检测被诊断为非整倍体或嵌合的患者捐献胚胎24枚。解冻捐赠胚胎行滋养层细胞活检（TE2）、内细胞团活检（ICM）并收集囊胚培养液/囊胚腔液（BCM/BF）通过高通量测序技术获得遗传信息。以ICM的结果为胚胎真实染色体结果，比较TE1、TE2及BCM/BF的核型一致性 ...
何姝婧 +7 more
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Ultrasound in Obstetrics &Gynecology, Volume 63, Issue 1, Page 15-23, January 2024.ABSTRACT Objectives First, to determine the incremental yield of whole‐genome sequencing (WGS) over quantitative fluorescence polymerase chain reaction (QF‐PCR)/chromosomal microarray analysis (CMA) with and without exome sequencing (ES) in fetuses, neonates and infants with a congenital anomaly that was or could have been detected on prenatal ...
N. Shreeve +6 more
wiley +1 more source
Rapid Diagnosis of Chromosomal Aneuploidy Using a Novel Copy Number Variation Detection Technology [PDF]
, 2010 拷贝数变异是近年来发现的新一代遗传标记，其蕴含巨大的信息需要我们去探索和挖掘，但缺乏简便实用的检测技术；染色体非整倍体是临床遗传诊断研究中最重要的一类目标疾病，其发病率高、病症严重且无有效的治疗手段，缺乏快速、准确、简便的诊断方法。本论文旨在开发一种新型的拷贝数变异检测技术，并以染色体非整倍体为对象展开系统研究。 第一章，综述拷贝数变异的发现与相关研究的发展过程，并介绍现有检测方法及其各自的优缺点；综述染色体非整倍体的相关背景、并介绍其传统诊断方法和新颖的分子生物学诊断技术及其各自的优缺点。最后 ...
王小波
core
Research on Breast Cancer Survival Prediction Based on Multi-Modal Learning [PDF]
Breast cancer is one of the most common cancers. Predicting 5-year survival based on patient genomics data is a common task in breast cancer research.
Guangshuo CAO, Ruizhang HUANG, Yanping CHEN, Yongbin QIN
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Zhongshan Daxue xuebao. Yixue kexue ban, 2023 目的探讨18q缺失综合征的产前诊断方法，提高对无创产前筛查（NIPT）技术在18q缺失综合征产前诊断中应用价值的认识。方法本研究通过对孕妇进行血清学筛查、超声影像学检查、羊水核型分析及亲本外周血染色体核型分析等传统检查手段以及NIPT检查、染色体微阵列芯片检测（CMA）、流产组织基因组拷贝数变异测序（CNV-Seq）检测等分子生物学技术来诊断18q缺失综合征，并根据检查结果进行遗传咨询。结果该病例NIPT结果提示18号染色体24 Mb片段缺失，经过羊水核型分析及CMA检测证实 ...
马莉 +4 more
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