Name: navigating marrvel, a web-based tool that integrates human genomics and model organism genetics information
Uploaded: 2019-08-15T13:00:00
Description: Watch this Scientific Journal Video about Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information at JoVE.com

我们感谢拉米·奥兰博士、金世英博士、胡延辉(克莱尔)、英惠万、纳文·马诺哈兰、萨西达尔·帕苏普莱蒂、阿拉姆·孔让、毛东学、迈克尔·旺勒、肖-图安·曹、斯蒂芬妮·莫尔和诺伯特·佩里蒙博士,感谢他们对发展的支持。维护马尔维尔。我们感谢萨曼莎·德和J·迈克尔·哈尼什对这份手稿的投入。
MARRVEL 的初步开发部分得到了未诊断疾病网络模型生物筛选中心通过 NIH 共同基金 (U54NS093793) 和 NIH 研究基础设施计划办公室 (ORIP) (R24OD022005) 的支持。JW由NIH尤尼斯·肯尼迪·施莱佛国家儿童健康与人类发展研究所(F30HD094503)和罗伯特和贾尼斯·麦克奈尔基金会麦克奈尔博士/博士生学者项目在BCM资助。HJB还得到NIH国家普通医学研究所(R01GM067858)的进一步支持,是霍华德·休斯医学研究所的研究员。ZL由NIH国家普通医学研究所(R01GM120033)、国家老龄研究所(R01AG057339)和赫芬顿基金会支持。SY获得了NIH国家耳聋和其他通信障碍研究所(R01DC014932)、西蒙斯基金会(SFARI奖:368479)、阿尔茨海默氏症协会(新调查员研究补助金:15-364099)、纳曼家族)的额外支持。基础研究基金和卡罗琳·威斯定律分子医学研究基金。

1. 如何开始搜索
<ol><li>对于人类基因和基于变异的搜索,转到步骤 1.1.1.-1.1.2。对于基于人类基因的搜索(无变体输入),转到步骤 1.2。有关基于基因的模型生物体搜索,请参阅步骤 1.3.1.-1.3.2。<ol>
<li>转到http://marrvel.org/的 MARRVEL4主页。首先输入人类基因符号。确保候选基因名称列在输入框下方,每个字符条目。如果搜索结果为阴性,请使用 HUGO 基因命名委员会网站 5(HGNC;https://www.genenames....

<ol>
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该协议中的关键步骤包括初始输入(步骤 1.1-1.3)和输出的后续解释。搜索结果为负的最常见原因是基因和/或变异的多种描述方式。虽然 MARRVEL 会按计划更新,但这些更新可能会导致 MARRVEL 链接到的不同数据库之间的断开连接。因此,故障排除的第一步是始终检查基因或变体的替代名称是否会导致成功的搜索结果。如果仍无法解决,请使用http://marrvel.org/message中的反馈表单向开发团队发送消息。
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下一代测序技术在研究和临床基因实验室中的应用正在扩大。全外显子 (WES) 和全基因组测序 (WGS) 分析揭示了已知致病基因中许多未知意义 (VUS) 的罕见变异,以及尚未与孟德尔病相关的基因变异(GUS:不确定基因)显著性)。在临床序列报告中列出基因和变异列表,医学遗传学家必须手动访问多个在线资源,以获取更多信息,以评估哪个变异可能负责感兴趣的患者中的特定表型.这个过程非常耗时,其有效性在很大程度上取决于个人的专业知识。虽然已经发表了几篇指导性文件,但WES和WGS的解释需要人工整理,因为尚有一个标准化的变体分析方法。对于VUS的解释,关于先前报告的基因型-表型关系、继承方式和一般人群中等位基因频率的知识变得有价值。此外,了解该变异是否影响关键蛋白质领域,或进化保存的残留物可能会增加或降低致病性的可能性。为了收集所有这些信息,人们通常需要浏览10-20个人体和模型生物体数据库,因为这些信息分散在万维网上。
同样,研究特定基因和途径的模型生物科学家往往有兴趣将他们的发现与人类疾病机制联系起来,并希望利用人类基因组学领域产生的知识。然而,由于人类基因组数据集的迅速扩展和演变,确定提供有用信息的数据库一直面临挑战。此外,由于大多数模型生物体数据库是为每天使用特定生物体的研究人员设计的,例如,小鼠研究人员很难在果蝇数据库中搜索具体信息,反之亦然。与医学遗传学家进行的变异解释搜索类似,识别有用的人类和其他模型生物体信息非常耗时,并且严重依赖模型生物体研究人员的背景。MARRVEL(用于稀有变异Expof的模型生物体聚合资源)4是一种为两组用户设计以简化其工作流程的工具。
MARRVEL(http://marrvel.org)被设计为一个集中的搜索引擎,以高效和一致的方式为临床医生和研究人员系统地收集数据。有了来自20个或更多公开数据库的信息,这个程序允许用户快速收集信息,并访问大量的人类和模型生物体数据库,而无需重复搜索。搜索结果页还包含指向原始信息来源的超链接,允许个人访问原始数据并收集来源提供的其他信息。
与许多需要以 VCF 或 BAM 文件形式输入大量排序数据以及安装通常专有/商业软件的变体优先级工具不同,MARRVEL 可在任何 Web 浏览器上运行。只要一台连接到互联网,就可以不带成本地使用,并与便携式设备(如智能手机、平板电脑)兼容。我们选择这种格式,因为许多临床医生和研究人员通常需要一次搜索一个或多个基因和变异。请注意,我们正在为 MARRVEL 开发批处理下载和 API(应用程序编程接口)功能,以便在必要时允许用户通过自定义查询工具一次整理数百个基因和变体。
由于应用程序范围广泛,在此协议中,我们将介绍一种涵盖广泛的方法,用于浏览 MARRVEL 显示的不同数据集。代表结果部分将介绍针对特定用户需求定制的更有针对性的示例。需要注意的是,MARRVEL的输出仍然需要人类遗传学或模型生物体获得一定的背景知识,才能提取有价值的信息。我们将读者参考表,该表列出了描述由 MARRVEL 策划的每个原始数据库的功能的主要论文(表 1)。以下协议分为三个部分:(1) 如何开始搜索,(2) 如何解释 MARRVEL 人类遗传学输出,(3) 如何在 MARRVEL 中使用模型生物体数据。在"代表性结果"部分中,介绍了重点更突出、更具体的方法。MARRVEL 正在积极更新,因此请参阅当前网站的常见问题页面,了解有关数据源的详细信息。我们强烈建议 MARRVEL 的用户注册,以便通过 MARRVEL 主页底部的电子邮件提交表单接收更新通知。

<table border="0" cellpadding="0" cellspacing="0" style="width:753px;" width="752">
	<colgroup>
		<col />
		<col span="2" />
		<col />
	</colgroup>
	<tbody>
		<tr height="21">
			<td height="21" style="height:21px;width:133px;">Human Genetics</td>
			<td dir="LTR" style="width:169px;">ClinVar</td>
			<td style="width:169px;">PMID: 29165669</td>
			<td dir="LTR" style="width:281px;">https://www.ncbi.nlm.nih.gov/clinvar/</td>
		</tr>
		<tr height="21">
			<td height="21" style="height:21px;width:133px;">Human Genetics</td>
			<td dir="LTR" style="width:169px;">DECIPHER</td>
			<td style="width:169px;">PMID: 19344873&#160;</td>
			<td dir="LTR" style="width:281px;">https://decipher.sanger.ac.uk/</td>
		</tr>
		<tr height="21">
			<td height="21" style="height:21px;width:133px;">Human Genetics</td>
			<td dir="LTR" style="width:169px;">DGV</td>
			<td style="width:169px;">PMID:&#160;24174537</td>
			<td dir="LTR" style="width:281px;">http://dgv.tcag.ca/dgv/app/home</td>
		</tr>
		<tr height="42">
			<td height="42" style="height:42px;width:133px;">Orthology Prediction</td>
			<td dir="LTR" style="width:169px;">DIOPT</td>
			<td style="width:169px;">PMID: 21880147&#160;</td>
			<td dir="LTR" style="width:281px;">https://www.flyrnai.org/cgi-bin/DRSC_orthologs.pl</td>
		</tr>
		<tr height="63">
			<td height="63" style="height:63px;width:133px;">Human Gene/Transcript Nomenclature</td>
			<td dir="LTR" style="width:169px;">Ensembl</td>
			<td style="width:169px;">PMID: 29155950&#160;</td>
			<td dir="LTR" style="width:281px;">https://useast.ensembl.org/</td>
		</tr>
		<tr height="21">
			<td height="21" style="height:21px;width:133px;">Human Genetics</td>
			<td dir="LTR" style="width:169px;">ExAC&#160;</td>
			<td style="width:169px;">PMID: 27535533</td>
			<td dir="LTR" style="width:281px;">http://exac.broadinstitute.org/</td>
		</tr>
		<tr height="63">
			<td height="63" style="height:63px;width:133px;">Primary Model Organism Databases</td>
			<td dir="LTR" style="width:169px;">FlyBase (Drosophila)</td>
			<td style="width:169px;">PMID:26467478</td>
			<td dir="LTR" style="width:281px;">http://flybase.org</td>
		</tr>
		<tr height="63">
			<td height="63" style="height:63px;width:133px;">Model Organism Database Integration Tools</td>
			<td style="width:169px;">Gene2Function</td>
			<td style="width:169px;">PMID: 28663344</td>
			<td dir="LTR" style="width:281px;">http://www.gene2function.org/search/</td>
		</tr>
		<tr height="42">
			<td height="42" style="height:42px;width:133px;">Human Genetics</td>
			<td dir="LTR" style="width:169px;">Geno2MP</td>
			<td>N/A</td>
			<td dir="LTR" style="width:281px;">http://geno2mp.gs.washington.edu/Geno2MP/</td>
		</tr>
		<tr height="106">
			<td height="106" style="height:106px;width:133px;">Human Genetics</td>
			<td dir="LTR" style="width:169px;">gnomAD</td>
			<td style="width:169px;">PMID: 27535533</td>
			<td dir="LTR" style="width:281px;">http://gnomad.broadinstitute.org/</td>
		</tr>
		<tr height="45">
			<td height="45" style="height:45px;width:133px;">Gene Ontology</td>
			<td dir="LTR" style="width:169px;">GO Central</td>
			<td style="width:169px;">PMID: 10802651, 25428369&#160;</td>
			<td dir="LTR" style="width:281px;">http://www.geneontology.org/</td>
		</tr>
		<tr height="63">
			<td height="63" style="height:63px;width:133px;">Human Gene/Protein Expression</td>
			<td dir="LTR" style="width:169px;">GTEx</td>
			<td style="width:169px;">PMID: 29019975, 23715323&#160;</td>
			<td dir="LTR" style="width:281px;">https://gtexportal.org/home/</td>
		</tr>
		<tr height="42">
			<td height="42" style="height:42px;width:133px;">Human Gene Nomenclature</td>
			<td dir="LTR" style="width:169px;">HGNC</td>
			<td style="width:169px;">PMID: 27799471&#160;</td>
			<td dir="LTR" style="width:281px;">https://www.genenames.org/</td>
		</tr>
		<tr height="63">
			<td height="63" style="height:63px;width:133px;">Primary Model Organism Databases</td>
			<td dir="LTR" style="width:169px;">IMPC (mouse)</td>
			<td style="width:169px;">PMID: 27626380</td>
			<td dir="LTR" style="width:281px;">http://www.mousephenotype.org/</td>
		</tr>
		<tr height="63">
			<td height="63" style="height:63px;width:133px;">Primary Model Organism Databases</td>
			<td dir="LTR" style="width:169px;">MGI (mouse)</td>
			<td style="width:169px;">PMID:25348401</td>
			<td dir="LTR" style="width:281px;">http://www.informatics.jax.org/</td>
		</tr>
		<tr height="61">
			<td height="61" style="height:61px;width:133px;">Model Organism Database Integration Tools</td>
			<td dir="LTR" style="width:169px;">Monarch Initiative</td>
			<td style="width:169px;">PMID: 27899636</td>
			<td dir="LTR" style="width:281px;">https://monarchinitiative.org/</td>
		</tr>
		<tr height="42">
			<td height="42" style="height:42px;width:133px;">Human Variant Nomenclature</td>
			<td style="width:169px;">Mutalyzer</td>
			<td style="width:169px;">PMID: 18000842&#160;</td>
			<td dir="LTR" style="width:281px;">https://mutalyzer.nl/</td>
		</tr>
		<tr height="21">
			<td height="21" style="height:21px;width:133px;">Human Genetics</td>
			<td dir="LTR" style="width:169px;">OMIM</td>
			<td style="width:169px;">PMID: 28654725</td>
			<td dir="LTR" style="width:281px;">https://omim.org/</td>
		</tr>
		<tr height="63">
			<td height="63" style="height:63px;width:133px;">Primary Model Organism Databases</td>
			<td dir="LTR" style="width:169px;">PomBase (fission yeast)</td>
			<td style="width:169px;">PMID:22039153</td>
			<td dir="LTR" style="width:281px;">https://www.pombase.org/</td>
		</tr>
		<tr height="21">
			<td height="21" style="height:21px;width:133px;">Literature</td>
			<td dir="LTR" style="width:169px;">PubMed</td>
			<td style="width:169px;">N/A</td>
			<td>https://www.ncbi.nlm.nih.gov/pubmed/</td>
		</tr>
		<tr height="63">
			<td height="63" style="height:63px;width:133px;">Primary Model Organism Databases</td>
			<td dir="LTR" style="width:169px;">RGD (rat)</td>
			<td style="width:169px;">PMID:25355511</td>
			<td dir="LTR" style="width:281px;">https://rgd.mcw.edu/</td>
		</tr>
		<tr height="63">
			<td height="63" style="height:63px;width:133px;">Primary Model Organism Databases</td>
			<td dir="LTR" style="width:169px;">SGD (budding yeast)</td>
			<td style="width:169px;">PMID: 22110037</td>
			<td dir="LTR" style="width:281px;">https://www.yeastgenome.org/</td>
		</tr>
		<tr height="63">
			<td height="63" style="height:63px;width:133px;">Human Gene/Protein Expression</td>
			<td dir="LTR" style="width:169px;">The Human Protein Atlas</td>
			<td style="width:169px;">PMID: 21752111</td>
			<td dir="LTR" style="width:281px;">https://www.proteinatlas.org/</td>
		</tr>
		<tr height="63">
			<td height="63" style="height:63px;width:133px;">Primary Model Organism Databases</td>
			<td dir="LTR" style="width:169px;">WormBase (C. elegans)</td>
			<td style="width:169px;">PMID:26578572</td>
			<td dir="LTR" style="width:281px;">http://wormbase.org</td>
		</tr>
		<tr height="63">
			<td height="63" style="height:63px;width:133px;">Primary Model Organism Databases</td>
			<td dir="LTR" style="width:169px;">ZFIN (zebrafish)</td>
			<td style="width:169px;">PMID:26097180</td>
			<td dir="LTR" style="width:281px;">https://zfin.org/</td>
		</tr>
	</tbody>
</table>

navigating marrvel, a web-based tool that integrates human genomics and model organism genetics information

通过全外体/基因组测序,人类遗传学家识别与疾病表型分离的罕见变异。要评估特定变异是否致病性,必须查询多个数据库,以确定相关基因是否与遗传疾病有关,特定变异之前是否报告过,以及模型生物体中有哪些功能数据数据库,可能提供有关基因在人类中功能的线索。MARRVEL(稀有变异传播模型生物群聚合资源)是一站式数据收集工具,用于7种模型生物体中的人类基因和变异及其正交基因,包括小鼠、大鼠、斑马鱼、果蝇、线虫、裂变酵母和萌芽酵母。在本协议中,我们概述了 MARRVEL 可用于什么用途,并讨论了如何使用不同的数据集来评估已知致病基因中具有未知意义的变体 (VUS) 或不确定意义基因 (GUS) 中的变体是否可能是致病。该协议将指导用户同时搜索多个人类数据库,从具有或没有感兴趣的变体的人类基因开始。我们还讨论如何利用来自OMIM、EXAC/gnomAD、克林瓦尔、Geno2MP、DGV和DECHIPHER的数据。此外,我们说明如何解释与每个人类基因相关的模型生物体中正交候选基因、表达模式和GO术语的列表。此外,我们讨论了所提供的价值蛋白质结构域注释,并解释了如何使用多物种蛋白质对齐功能来评估感兴趣的变体是否影响进化保护的域或氨基酸。最后,我们将讨论此网站的三个不同的用例。MARRVEL 是一个易于访问的开放访问网站,专为临床和基础研究人员设计,是功能研究设计实验的起点。

人类遗传学家和模型生物体科学家各自以不同的方式使用MARRVEL,每个方法都有不同的理想结果。以下是 MARRVEL 的可能用途的三个小插曲。
评估主导性疾病变异的致病性 访问 MARRVEL 的大多数用户使用本网站来分析罕见人类变异可能导致某种疾病的可能性。例如,在 TBX2中发现一个误感 (17:59477596 G>A, p.R20Q) 变体在具有畸形特征和裂口、心脏缺陷、骨骼和数字异...

Watch this Scientific Journal Video about Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information at JoVE.com

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

在这里,我们提出了一个协议,以有效地访问和分析许多人类和模型生物体数据库。该协议演示了使用 MARRVEL 分析从下一代测序工作中发现的候选致病变异。

导航 MARRVEL,一种基于 Web 的工具,集成了人类基因组学和模型有机体遗传学信息

Through whole-exome/genome sequencing, human geneticists identify rare variants that segregate with disease phenotypes. To assess if a specific variant is ...

MARRVEL.org汇总信息，可以概述人类基因的疾病相关性，主要关注罕见的遗传疾病。它还从模型生物体数据库中收集生物信息。MARRVEL 可以节省大量的时间和精力。如果没有此工具，用户将花费数小时搜索不同的数据库，以收集MARVEL可以在几秒钟内获得的信息。MARRVEL 被世界各地的医生和科学家积极使用。它有利于诊断，并可以是探索更多治疗研究信息的起点。虽然我们大多数用户都有人类遗传学背景，但我们拥有越来越多的来自生物医学领域的用户，包括模型生物体研究人员。对于人类基因和基于变异的搜索，请打开 MARRVEL 主页。搜索可以单独使用基因信息、变种信息单独执行，或者同时使用基因和变异信息进行搜索。确认候选基因名称列在输入框下方，每个字符输入。如果搜索返回阴性，请使用 HGNC 网站确保使用的基因符号是最新的。接下来，输入人类变异信息，了解 Exome 聚合联盟和基因组聚合数据库中的变体显示方式，或者根据人类基因组变异协会指南使用基于成绩单的术语。对于基因组位置命名，根据智人基因组总成19使用坐标。要获取与MARRVEL感兴趣的人类基因相关的模型生物体数据，请使用基因功能表获取八个模型生物体的以下每个数据。由于每个基因名称都超链接到其各自的模型生物体数据库中的基因页面，请单击链接以了解有关每个模型生物体可用的表型信息和资源的更多信息。例如，在 FlyBase 上，将有一个列表，列出已生成的所有等位基因、它们各自的表型以及来自公共股票中心的每个等位基因的可用性。在基因功能表中，单击 PubMed 链接可转到与每个生物体中感兴趣的基因相关的出版物列表。要查看模型生物体基因可能是感兴趣的人类基因的正交体的置信度，请检查DIOPT列，以度量模型生物体基因可能是感兴趣的人类基因的正交体。取消选中"仅显示最佳 DIOPT 分数基因框"，以显示通常包括准基因和同源基因的所有候选基因，这些基因不一定是每个模型生物体中的正交基因。要确定感兴趣的基因或蛋白质的表达，请查看"表达"列，查看据报在人类或模型生物体数据库中表达感兴趣的基因或蛋白质的组织列表。人类转录组数据取自基因型组织表达（GTEx）和人蛋白表达数据，来自人类蛋白质图集。在"表达式"列中，某些数据将具有一个按钮，该按钮包含弹出式链接，例如用于人类和飞行数据，这些按钮使用热图显示基因或蛋白质表达模式。其他数据将超链接到各自的模型生物体数据库页面，供进一步探索。要访问基因本体学术语，请检查分子功能、细胞成分和生物过程列。这些数据已被实验证据代码过滤，并显示基于每个模型生物体中直接实验证据的基因本体学术语。使用君主倡议导航到特定人类基因的"凤凰网格"页面。将显示一个图表，提供与已知人类疾病感兴趣的基因相关的表型与具有表型重叠的模型生物体突变体之间的快速比较。如果小鼠基因具有由国际小鼠表型联盟制作或计划的淘汰鼠标，单击 IMPC 将链接到页面，该页面将详细说明淘汰小鼠的表型及其从公共库存中心的可用性。要获取有关感兴趣的人类蛋白质的预测蛋白域的信息，请单击"人类基因蛋白域"框。数据来自DIOPT，它使用蛋白质系列和保守域数据库。由于两个源中注释的域中存在某些重叠，单个残渣可能会不止一次进行注释。然后使用多蛋白对齐框获取 DIOPT 生成的氨基酸多对齐，该对齐程序使用多个对齐程序进行氨基酸或核苷酸序列对齐器。要突出显示感兴趣的氨基酸，请向下滚动到框的底部并输入感兴趣的氨基酸编号。要开始基于模型生物体基因的MARVEL搜索，请单击模型生物体搜索并选择选择的模型生物体。输入模型生物体基因符号，单击基因符号，因为名称是自动完成的，然后单击搜索。如果搜索结果为阴性，请检查模型生物体数据库中使用的官方基因符号。如果搜索结果仍然是阴性，访问 DIOPT 和奥数预测搜索数据库，以评估是否有良好的预测正交图感兴趣的基因。如果搜索为阳性，请检查DIOPT得分和从人类基因到模型生物体列的最佳分数，以选择人类基因。如果该基因的 DIOPT 分数为 3 分或更多，并且从人类基因到模型生物体的最佳分数标记为"是"，则很可能有多个基因对感兴趣的模型生物体基因具有正交性。单击 MARRVEL 它链接以显示每个人类矫形器候选项的搜索结果。在这种情况下，只有一个候选者。要解释MARVEL人类遗传学输出的基因和利益变种，点击在线孟德利亚继承在人类，或OMIM。使用"人类基因描述"框获取有关基因和基因产品的简短摘要。使用基因-光型关系框确定感兴趣的基因是否已知为孟德利亚致病基因。此框将提供手动策划的已知疾病和其他表型关联与感兴趣的基因。"来自 OMIM 的已报告 Alleles"框可用于获取此数据库策划的致病变异列表，以查看感兴趣的变体是否已作为致病性在 OMIM 中策划。在此示例中，对人类 TBX2 进行了搜索，以评估该基因的已知生物功能，以及该基因中特定小姐变异的潜在功能影响，该基因在涉及骨骼、心脏和免疫系统的罕见疾病的一个小家族中分离。在这里，可以看到 TBX2 搜索的输出。根据MARRVEL中显示的模型生物体信息，很快确定这种感兴趣的基因从C.elegans和果蝇保存到人类身上，感兴趣的氨基酸精氨酸20也在整个进化过程中得到高度保护。请注意，大鼠 TBX2 在此区域中不对齐良好，这可能是由于用于对齐的脚本。通过观察不同物种中TBX2正交学的基因本体术语，可以观察到TBX2编码了与小鼠和斑马鱼的心脏形态和其他生物过程有关的心脏形态形成和其他生物过程的转录因子。由于人类TBX2在基于心脏的基因型组织表达和蛋白质图集中表达，而具有TBX2变异的患者表现出心脏缺陷，可以得出结论，该变异是实验探索的一个很好的候选者。基因名称可能会随着时间而变化，因此确认您使用的最新官方基因符号是基于人类或模型生物体数据库非常重要。请观看我们随附的 JoVE 视频文章，标题为"使用果蝇病相关稀有人类变异的 Vivo 功能研究"，以便进行进一步的实验研究。MARRVEL 一直支持临床医生和研究人员促进疾病诊断和机械研究。我们将继续这样做，通过添加新的功能到程序，因为我们前进。MARRVEL 正在不断升级，因此我们建议用户阅读"最新功能"部分，以了解已引入的新功能的最新信息。

Research

Education

JoVE Journal

JoVE Core

Molecular Biology

Genetics

Unit 1

DNA, Cells, and Evolution

SCIENTISTS IN ACTION

Parallel Measurement of Circadian Clock Gene Expression and Hormone Secretion in Human Primary Cell Cultures

在人原代细胞培养生物钟基因表达及荷尔蒙分泌的并行测量

Circadian clocks are functional in all light-sensitive organisms, allowing for an adaptation to the external world by anticipating daily environmental ...

科研

遗传学

Determination of the Optimal Chromosomal Location(s) for a DNA Element in Escherichia coli Using a Novel Transposon-mediated Approach

Determination of the Optimal Chromosomal Locations for a DNA Element in Escherichia coli Using a Novel Transposon-mediated Approach

用新的转介导法测定大肠杆菌中 DNA 元素的最佳染色体位置 (s)

The optimal chromosomal position(s) of a given DNA element was/were determined by transposon-mediated random insertion followed by fitness selection. In ...

Highly Efficient Gene Disruption of Murine and Human Hematopoietic Progenitor Cells by CRISPR/Cas9

CRISPR/Cas9 对小鼠和人造血祖细胞的高效基因破坏

Advances in the hematopoietic stem cell (HSCs) field have been aided by methods to genetically engineer primary progenitor cells as well as animal models. ...

Ultralow Input Genome Sequencing Library Preparation from a Single Tardigrade Specimen

单缓步动物标本的超低输入基因组测序库制备

Tardigrades are microscopic animals that enter an ametabolic state called anhydrobiosis when facing desiccation and can return to their original state ...

Differentiation, Maintenance, and Analysis of Human Retinal Pigment Epithelium Cells: A Disease-in-a-dish Model for BEST1 Mutations

Differentiation, Maintenance, and Analysis of Human Retinal Pigment Epithelium Cells: A Disease-in-a-dish Model for BEST1 Mutations

人视网膜色素上皮细胞的分化、维持和分析: 一种BEST1突变的碟形模型

Although over 200 genetic mutations in the human BEST1 gene have been identified and linked to retinal degenerative diseases, the pathological mechanisms ...

CRISPR-mediated Genome Editing of the Human Fungal Pathogen Candida albicans

CRISPR-mediated Genome Editing of the Human Fungal Pathogen Candida albicans

crispr 介导的人类真菌病原体白色念珠菌基因组编辑

This method describes the efficient CRISPR mediated genome editing of the diploid human fungal pathogen Candida albicans. CRISPR-mediated genome editing ...

Novel Sequence Discovery by Subtractive Genomics

减法基因组学的新序列发现

Subtractive genomics can be used in any research where the goal is to identify the sequence of a gene, protein, or general region that is embedded in a ...

Chromogenic In Situ Hybridization as a Tool for HPV-Related Head and Neck Cancer Diagnosis

原位杂交的色原性杂交是HPV相关头颈部癌症诊断的工具

Human papillomavirus (HPV) infection is a major risk factor for a subtype of oropharyngeal squamous cell carcinoma (OPSCC), which tends to be associated ...

Modulation of Tau Subcellular Localization as a Tool to Investigate the Expression of Disease-related Genes

陶子细胞定位作为研究疾病相关基因表达的工具的调制

Tau is a microtubule binding protein expressed in neurons and its main known function is related to the maintenance of cytoskeletal stability. However, ...

Preparation of Meiotic Chromosome Spreads from Zebrafish Spermatocytes

从斑马鱼精子细胞中培养染色体传播

Meiosis is the key cellular process required to create haploid gametes for sexual reproduction. Model organisms have been instrumental in understanding ...