Practical Integration-Free Episomal Methods for Generating Human Induced Pluripotent Stem Cells [0.03%]
实用的非整合型 episome 方法用于生成人类诱导多能干细胞
Cody Kime,Tim A Rand,Kathryn N Ivey et al.
Cody Kime et al.
The advent of induced pluripotent stem (iPS) cell technology has revolutionized biomedicine and basic research by yielding cells with embryonic stem (ES) cell-like properties. The use of iPS-derived cells for cell-based therapies and modeli...
Alternative Splicing Signatures in RNA-seq Data: Percent Spliced in (PSI) [0.03%]
RNA测序数据中的选择性剪接特征：剪接百分数(PSI)
Sebastian Schafer,Kui Miao,Craig C Benson et al.
Sebastian Schafer et al.
Thousands of alternative exons are spliced out of messenger RNA to increase protein diversity. High-throughput sequencing of short cDNA fragments (RNA-seq) generates a genome-wide snapshot of these post-transcriptional processes. RNA-seq re...
Iraad F Bronner,Michael A Quail,Daniel J Turner et al.
Iraad F Bronner et al.
In this unit, we describe a set of improvements that have been made to the standard Illumina protocols to make the sequencing process more reliable in a high-throughput environment, reduce amplification bias, narrow the distribution of inse...
Finding Pathogenic Nucleic Acid Sequences in Next Generation Sequencing Data [0.03%]
在下一代测序数据中查找致病核酸序列
Michael Parfenov,J G Seidman
Michael Parfenov
Viruses and bacteria are established as one of the main causes of human diseases from hepatitis to cancer. Recently, the presence of such pathogens has been extensively studied using human whole genome and transcriptome sequencing data. How...
Vaithamanithi-Mudumbai Sadagopa Ramanujam,Karl Elmo Anderson
Vaithamanithi-Mudumbai Sadagopa Ramanujam
Porphyria diseases are a group of metabolic disorders caused by abnormal functioning of heme biosynthesis enzymes and characterized by excessive accumulation and excretion of porphyrins and their precursors. Precisely which of these chemica...
Determination of Activity of the Enzymes Hypoxanthine Phosphoribosyl Transferase (HPRT) and Adenine Phosphoribosyl Transferase (APRT) in Blood Spots on Filter Paper [0.03%]
测定血液斑点中次黄嘌呤鸟嘌呤磷酸核糖转移酶（HPRT）和腺嘌呤磷酸核糖转移酶（APRT）活性的方法
Kasie Auler,Robyn Broock,William L Nyhan
Kasie Auler
Hypoxanthine-guanine phosphoribosyl-transferase (HPRT) deficiency is the cause of Lesch-Nyhan disease. Adenine phosphoribosyl-transferase (APRT) deficiency causes renal calculi. The activity of each enzyme is readily determined on spots of ...
Xueli Li,Mohd A Raihan,Francis Jeshira Reynoso et al.
Xueli Li et al.
Congenital disorders of glycosylation (CDG) are a group of diseases with highly variable phenotypes and inconsistent clinical features. Since the first description of a CDG in 1980, approximately 100 disorders have been identified. Most of ...
Tabitha Hendershot,Huaqin Pan,Jonathan Haines et al.
Tabitha Hendershot et al.
The PhenX (consensus measures for Phenotypes and eXposures) Toolkit (https://www.phenxtoolkit.org/) offers high-quality, well-established measures of phenotypes and exposures for use by the scientific community. The goal is to promote the u...
Preparation of Amniocytes for Interphase Fluorescence In Situ Hybridization (FISH) [0.03%]
羊水细胞的制备用于间期荧光原位杂交(FISH)检测
Stuart Schwartz
Stuart Schwartz
FISH has been used to detect and clarify deletions and/or other structural rearrangements, and also has applications in interphase analysis. This unit describes preparation of uncultured amniotic fluid cells for FISH analysis. Cells are swo...
Arleen D Auerbach
Arleen D Auerbach
Fanconi anemia (FA) is a genetically and phenotypically heterogeneous disorder characterized by congenital malformations, progressive bone marrow failure, and predisposition to cancer, particularly hematological malignancies and solid tumor...