Lina Sui,Rudolph L Leibel,Dieter Egli
Lina Sui
Insulin-expressing beta cells are crucial for the maintenance of systemic glucose homeostasis. Elucidation of the molecular and cellular mechanisms of beta cell development, expansion, survival, and function are required for full understand...
Badri N Vardarajan,Gary W Beecham,Jonathan L Haines
Badri N Vardarajan
In this article, we discuss strategies for selection of families and family members for genetic studies. We will evaluate strategies to sample large families with multiply affected members, sibships, and nuclear families. In addition, we ha...
Droplet Digital PCR with EvaGreen Assay: Confirmational Analysis of Structural Variants [0.03%]
使用EvaGreen试剂的微滴式数字PCR技术对结构变异进行确认分析
Angela C Tai,Michael Parfenov,Joshua M Gorham
Angela C Tai
DNA structural variants can be analyzed by droplet digital PCR (ddPCR), a water-oil microfluidics and fluorescence technology to quantify target nucleic acids with extreme precision and sensitivity. Traditional ddPCR uses expensive fluoresc...
Susan H Slifer
Susan H Slifer
Genetic data analysis of large numbers of single nucleotide variants (SNVs), including genome-wide association studies (GWAS), exome chips, and whole exome (WES) or whole-genome (WGS) sequencing data, requires well defined processing steps....
Computational Prediction of Position Effects of Human Chromosome Rearrangements [0.03%]
人类染色体重组位置效应的计算预测方法研究进展
Cinthya J Zepeda-Mendoza,Shreya Menon,Cynthia C Morton
Cinthya J Zepeda-Mendoza
Balanced and apparently balanced chromosome abnormalities (BCAs) have long been known to generate disease through position effects, either by altering local networks of gene regulation or positioning genes in architecturally different chrom...
In vivo and In vitro methods to identify DNA sequence variants that alter RNA Splicing [0.03%]
体内和体外识别改变RNA剪接的DNA序列变异的方法
Parth N Patel,Joshua M Gorham,Kaoru Ito et al.
Parth N Patel et al.
Identification of sequence variants that create or eliminate splice sites has proven to be a significant challenge and represents one of many roadblocks in the clinical interpretation of rare genetic variation. Current methods of identifyin...
Thomas Liehr,Monika Ziegler,Sharon Löhmer et al.
Thomas Liehr et al.
We describe a simple and straightforward method for detection and characterization of X-chromosome inactivation in females and/or individuals with more than one X chromosome. The X-chromosome inactivation pattern is visualized on a single-c...
Cui Song,Hatice Duzkale,Jun Shen
Cui Song
High-throughput sequencing and high-performance computing technologies have become powerful tools in clinical genetic diagnosis of hereditary disorders and genetic screening of healthy individuals to provide information for the diagnosis, t...
Efficient Differentiation of Human Pluripotent Stem Cells to Endothelial Cells [0.03%]
人多能干细胞向内皮细胞高效分化
Mingxia Gu
Mingxia Gu
Endothelial cells (ECs) line the interior surface of blood and lymphatic vessels, and play a key role in a variety of physiological or pathological processes such as thrombosis, inflammation, or vascular wall remodeling. Human-induced pluri...
Capture Hi-C Library Generation and Analysis to Detect Chromatin Interactions [0.03%]
染色质相互作用的捕捉Hi-C文库构建及分析方法检测染色质相互作用
Giulia Orlando,Ben Kinnersley,Richard S Houlston
Giulia Orlando
Chromosome conformation capture (3C), coupled with next-generation sequencing (Hi-C), provides a means for deciphering not only the principles underlying genome folding and architecture, but more broadly, the role 3D chromatin structure pla...