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期刊名:Current protocols in human genetics

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ISSN:1934-8266

e-ISSN:1934-8258

IF/分区:0.0/

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共收录本刊相关文章索引456
Clinical Trial Case Reports Meta-Analysis RCT Review Systematic Review
Classical Article Case Reports Clinical Study Clinical Trial Clinical Trial Protocol Comment Comparative Study Editorial Guideline Letter Meta-Analysis Multicenter Study Observational Study Randomized Controlled Trial Review Systematic Review
Elisa Giacomelli,Milena Bellin,Valeria V Orlova et al. Elisa Giacomelli et al.
The formation of cardiac mesodermal subtypes is highly regulated in time and space during heart development. In vitro models based on human pluripotent stem cells (hPS cells) provide opportunities to study mechanisms underlying fate choices...
Nara L M Sobreira,Harindra Arachchi,Orion J Buske et al. Nara L M Sobreira et al.
In well over half of the individuals with rare disease who undergo clinical or research next-generation sequencing, the responsible gene cannot be determined. Some reasons for this relatively low yield include unappreciated phenotypic heter...
Daniel Shriner Daniel Shriner
Admixture mapping is a powerful method of gene mapping for diseases or traits that show differential risk by ancestry. Admixture mapping has been applied most often to Americans who trace ancestry to various combinations of Native Americans...
Babi Ramesh Reddy Nallamilli,Madhuri Hegde Babi Ramesh Reddy Nallamilli
Hereditary nonpolyposis colorectal cancer (HNPCC), also called Lynch syndrome, is an autosomal dominant cancer syndrome that confers an elevated risk of early-onset colorectal cancer (CRC) and increased lifetime risk for other cancers of th...
Katy Phelan,Kristin M May Katy Phelan
Cultured mammalian cells are used extensively in the field of human genetics. It requires a number of special skills in order to be able to preserve the structure, function, behavior, and biology of the cells in culture. This unit describes...
George McNamara,Michael Difilippantonio,Thomas Ried et al. George McNamara et al.
This unit provides an overview of light microscopy, including objectives, light sources, filters, film, and color photography for fluorescence microscopy and fluorescence in situ hybridization (FISH). We believe there are excellent opportun...
Sara Goodwin,Robert Wappel,W Richard McCombie Sara Goodwin
Today's short-read sequencing instruments can generate read lengths between 50 bp and 700 bp depending on the specific instrument. These high-throughput sequencing approaches have revolutionized genomic science, allowing hundreds of thousan...
Zirui Dong,Weiwei Xie,Haixiao Chen et al. Zirui Dong et al.
Emerging studies have demonstrated that whole-genome sequencing (WGS) is an efficient tool for copy-number variants (CNV) detection, particularly in probe-poor regions, as compared to chromosomal microarray analysis (CMA). However, the cost...
William Wan,Leslie Leinwand William Wan
In cardiovascular disease research, studies often include measuring cardiac function and performing histological examination of heart tissue. After measuring contractility, hearts from animals such as mice and rats are often frozen or fixed...
Bruce R Korf,Fady M Mikhail Bruce R Korf
Both cytogenetic and molecular genetic studies can contribute to the management of patients with cancer. In some cases, genetic markers are specific to particular tumor types and are useful in diagnosis. This can be helpful in distinguishin...