Targeted sequencing using Affymetrix CustomSeq Arrays [0.03%]
利用Affymetrix CustomSeq Array进行目标序列捕获测序
Polakit Teekakirikul,Stephanie Cox,Birgit Funke et al.
Polakit Teekakirikul et al.
This unit provides a basic protocol for oligo hybridization-based sequencing technology and resulting data analysis specific to the Affymetrix GeneChip CustomSeq Resequencing Array platform. All steps and critical aspects related to array d...
Mitochondrial genetics [0.03%]
线粒体遗传学
J Daniel Sharer
J Daniel Sharer
Tyra G Wolfsberg
Tyra G Wolfsberg
This unit includes a basic protocol with an introduction to the Map Viewer, describing how to perform a simple text-based search of genome annotations to view the genomic context of a gene, navigate along a chromosome, zoom in and out, and ...
Giulietta M Spudich,Xosé M Fernández-Suárez
Giulietta M Spudich
Biological databases are an important resource for the life sciences community. Accessing the hundreds of databases supporting molecular biology and related fields is a daunting and time-consuming task. Integrating this information into one...
Victor Venegas,Jing Wang,David Dimmock et al.
Victor Venegas et al.
Mitochondrial disorders are a group of complex and heterogeneous diseases that may be caused by molecular defects in the nuclear or mitochondrial genome. The biosynthesis and integrity of the small 16.6-kb mitochondrial genome require a gro...
Analysis of mitochondrial DNA point mutation heteroplasmy by ARMS quantitative PCR [0.03%]
ARMS定量PCR分析线粒体DNA点突变杂合度的研究
Jing Wang,Victor Venegas,Fangyuan Li et al.
Jing Wang et al.
Mitochondrial disorders are a group of complex and heterogeneous diseases that may be caused by molecular defects in both the nuclear and mitochondrial genomes. Pathogenic mitochondrial DNA (mtDNA) mutations are usually present in the heter...
Strategies for genotyping [0.03%]
基因分型策略
Dana C Crawford,Holli Hutcheson Dilks
Dana C Crawford
The identification of genomic loci linked to or associated with human disease has been greatly facilitated by the evolution of genotyping strategies and techniques. The success of these strategies continues to be based upon clear clinical a...
Stephen Turner,Loren L Armstrong,Yuki Bradford et al.
Stephen Turner et al.
Genome-wide association studies (GWAS) are being conducted at an unprecedented rate in population-based cohorts and have increased our understanding of the pathophysiology of complex disease. Regardless of context, the practical utility of ...
Diagnosis of cryptic chromosomal syndromes by fluorescence in situ hybridization (FISH) [0.03%]
荧光原位杂交(FISH)技术在染色体异常核型诊断中的应用价值
Catherine D Kashork,Aaron Theisen,Lisa G Shaffer
Catherine D Kashork
This unit describes the various methods by which cytogeneticists detect chromosome abnormalities. The unit offers guidance for detecting such abnormalities with fluorescence in situ hybridization (FISH), as well as the benefits, limitations...
Ping Mayo,Toinette Hartshorne,Kelly Li et al.
Ping Mayo et al.
Copy number variations are important polymorphisms that can influence the expression of genes within and close to the rearranged region. This allows transcription levels to be higher or lower than those that can be achieved by control of tr...