Lasse Sommer Kristensen,Marianne Bach Treppendahl,Kirsten Grønbæk
Lasse Sommer Kristensen
Epigenetics, the study of somatically heritable changes in gene expression not related to changes in the DNA sequence, is a rapidly expanding research field that plays important roles in healthy as well as in diseased cells. DNA methylation...
Olaf A Bodamer,Britt Johnson,Angela Dajnoki
Olaf A Bodamer
Fabry disease (FD) is an X-linked lysosomal storage disorder due to deficiency of alpha galactosidase A (GLA). Progressive, intralysosomal accumulation of neutral glycosphingolipids in endothelial cells and podocytes leads to multi-organ in...
Kathryn L Lunetta
Kathryn L Lunetta
Modern genetic association studies, using genome-wide genotype data, are often underpowered. Meta-analyses of multiple studies performing genome-wide genotyping improve power and have led to the identification of thousands of genotype-trait...
Shuko Harada,Bruce R Korf
Shuko Harada
This unit describes the overview and strategies for molecular genetic diagnosis. Molecular genetic testing is typically used to detect changes in a single gene, and includes direct sequence analysis and detection of large deletion/duplicati...
Predicting functional effect of human missense mutations using PolyPhen-2 [0.03%]
用PolyPhen-2预测人类错义突变的功能效应
Ivan Adzhubei,Daniel M Jordan,Shamil R Sunyaev
Ivan Adzhubei
PolyPhen-2 (Polymorphism Phenotyping v2), available as software and via a Web server, predicts the possible impact of amino acid substitutions on the stability and function of human proteins using structural and comparative evolutionary con...
A multifaceted FISH approach to study endogenous RNAs and DNAs in native nuclear and cell structures [0.03%]
用于研究天然核和细胞结构中内源RNA和DNA的多重荧光原位杂交方法
Meg Byron,Lisa L Hall,Jeanne B Lawrence
Meg Byron
Fluorescence in situ hybridization (FISH) is not a singular technique, but a battery of powerful and versatile tools for examining the distribution of endogenous genes and RNAs in precise context with each other and in relation to specific ...
Quantification of glycosaminoglycans in urine by isotope-dilution liquid chromatography-electrospray ionization tandem mass spectrometry [0.03%]
同位素稀释液相色谱-电喷雾串联质谱法测定尿糖胺聚糖定量
Haoyue Zhang,Sarah P Young,David S Millington
Haoyue Zhang
Mucopolysaccharidoses (MPSs) are complex lysosomal storage disorders that result in the accumulation of glycosaminoglycans (GAGs) in urine, blood, and tissues. Lysosomal enzymes responsible for GAG degradation are defective in MPSs. GAGs in...
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 African Americans who trace ancestry to Europeans and West Africans. Rec...
Preparation of chorionic villus samples for metaphase chromosome analysis and chromosomal microarray analysis [0.03%]
羊膜绒毛取样制备染色体核型及微阵列分析
Amy Breman,Ankita Patel
Amy Breman
Chorionic villi are composed of an outer layer of trophoblastic cells and an inner mesenchymal cell core. They can be prepared for chromosome analysis using a culture method wherein villi are disaggregated by mechanical and enzymatic method...
A survey of copy-number variation detection tools based on high-throughput sequencing data [0.03%]
基于高通量测序数据的拷贝数变异检测工具研究综述
Ruibin Xi,Semin Lee,Peter J Park
Ruibin Xi
Copy-number variation (CNV) is a major class of genomic variation with potentially important functional consequences in both normal and diseased populations. Remarkable advances in development of next-generation sequencing (NGS) platforms p...