Use of Affymetrix Arrays in the Diagnosis of Gene Copy-Number Variation [0.03%]
基因拷贝数变异诊断中使用Affymetrix芯片技术
Farah R Zahir,Marco A Marra
Farah R Zahir
Diagnosing constitutional pathogenic copy number variants (CNVs) requires detecting submicroscopic segmental chromosomal imbalances. The Affymetrix GeneChip mapping array was one of the initial microarray platforms used to measure duplicati...
Julius W Kim,J Robert Kane,Jacob S Young et al.
Julius W Kim et al.
The use of stem cells (SCs) as carriers for therapeutic agents has now progressed to early clinical trials. These clinical trials exploring SC-mediated delivery of oncolytic adenoviruses will commence in the near future, hopefully yielding ...
Probe-Directed Degradation (PDD) for Flexible Removal of Unwanted cDNA Sequences from RNA-Seq Libraries [0.03%]
用于从RNA测序库中灵活去除不需要的cDNA序列的探针引导降解(PDD)方法
Stuart K Archer,Nikolay E Shirokikh,Thomas Preiss
Stuart K Archer
Most applications for RNA-seq require the depletion of abundant transcripts to gain greater coverage of the underlying transcriptome. The sequences to be targeted for depletion depend on application and species and in many cases may not be ...
Preparation of Cells from Formalin-Fixed, Paraffin-Embedded Tissue for Use in Fluorescence In Situ Hybridization (FISH) Experiments [0.03%]
福尔马林固定石蜡包埋组织制备细胞用于荧光原位杂交实验
Stanislawa Weremowicz
Stanislawa Weremowicz
Numerical and structural chromosome abnormalities can be accurately detected in cells from archived tissues using fluorescence in situ hybridization (FISH). This unit describes two common approaches to performing FISH in formalin-fixed, par...
Noninvasive prenatal testing using cell-free fetal DNA in maternal plasma [0.03%]
从母体血浆中游离的胎儿DNA进行非创性产前检测
Nilesh Dharajiya,Tricia Zwiefelhofer,Xiaojun Guan et al.
Nilesh Dharajiya et al.
Noninvasive prenatal testing (NIPT) represents an outstanding example of how novel scientific discoveries can be quickly and successfully developed into hugely impactful clinical diagnostic tests. Since the introduction of NIPT to detect tr...
Christa Lese Martin,David H Ledbetter
Christa Lese Martin
Genomic imbalances involving the telomeric regions of human chromosomes, which contain the highest gene concentration in the genome, are proposed to have severe phenotypic consequences. For this reason, it is important to identify telomere ...
Britt A Johnson,Angela Dajnoki,Olaf A Bodamer
Britt A Johnson
Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disorder due to deficiency of alpha iduronidase (IDUA). Progressive storage of dermatan and heparan sulfate throughout the body lead to a multiorgan presentation including short st...
David F B Miller,Pearlly X Yan,Fang Fang et al.
David F B Miller et al.
Stranded whole transcriptome RNA-Seq described in this unit captures quantitative expression data for all types of RNA including, but not limited to, miRNA (microRNA), piRNA (Piwi-interacting RNA), snoRNA (small nucleolar RNA), lincRNA (lar...
Statistical methods for genome-wide and sequencing association studies of complex traits in related samples [0.03%]
家系样本的全基因组和测序关联研究中的统计方法
Timothy A Thornton
Timothy A Thornton
Genome-wide association studies (GWAS) and sequencing studies are routinely conducted for the identification of genetic variants that are associated with complex traits. Many genetic studies for association mapping include related individua...
Babi Ramesh Reddy Nallamilli,Arunkanth Ankala,Madhuri Hegde
Babi Ramesh Reddy Nallamilli
Duchenne Muscular Dystrophy (DMD) is an X-linked inherited neuromuscular disorder caused by mutations in the dystrophin gene (DMD; locus Xp21.2). The mutation spectrum of DMD is unique in that 65% of causative mutations are intragenic delet...