J Daniel Sharer,Bruce R Korf
J Daniel Sharer
Francois Vigneault,Dmitry Ter-Ovanesyan,Shahar Alon et al.
Francois Vigneault et al.
Next-generation sequencing offers many advantages over other methods of microRNA (miRNA) expression profiling, such as sample throughput and the capability to discover novel miRNAs. As the sequencing depth of current sequencing platforms ex...
Metaphase harvest and cytogenetic analysis of malignant hematological specimens [0.03%]
恶性血液病标本的有丝分裂中期细胞收获及染色体核型分析
Paola Dal Cin,Cynthia McLaughlin
Paola Dal Cin
Cytogenetic analysis of malignant hematological disease is an important methodology used by clinicians and researchers, as observations of clonal chromosomal abnormalities have been shown to have both diagnostic and prognostic significance....
Methods for detecting and correcting for population stratification [0.03%]
检测和矫正分层.population stratification的方法
Todd L Edwards,Xiaoyi Gao
Todd L Edwards
Population stratification (PS) is a primary consideration in studies of the genetic determinants of human traits. Failure to control for it may lead to confounding, causing a study to fail for lack of significant results or resources to be ...
Kerry K Brown,Heidi L Rehm
Kerry K Brown
This unit discusses an approach to identifying a genetic etiology in an individual with nonsyndromic hearing loss. The unit begins with a discussion of the decision-making process that can be used to determine whether specific genes and/or ...
Manuel Corpas,Eugene Bragin,Stephen Clayton et al.
Manuel Corpas et al.
Many patients suffering from developmental disorders have submicroscopic deletions or duplications affecting the copy number of dosage-sensitive genes or disrupting normal gene expression. Many of these changes are novel or extremely rare, ...
Determination of sialylated and neutral oligosaccharides in urine by mass spectrometry [0.03%]
基于质谱的尿糖链分析方法及应用研究进展
Peter R Clements
Peter R Clements
This protocol describes a method to allow for the detection of specific oligosaccharide fragments in urine by tandem mass spectrometry. The detection of fragments with specific masses indicates the presence of one of a number of diseases wh...
Douglas P Mortlock,Steven Pregizer
Douglas P Mortlock
The recent success of genome-wide association studies has generated a trove of biologically significant variants implicated in human disease. However, many, if not most, of these variants fall in noncoding regions that have traditionally la...
Collection of clinical and epidemiological data for genetic linkage and association studies [0.03%]
遗传连锁和关联研究的临床和流行病学资料收集
Lindsay Farrer,Mark Logue
Lindsay Farrer
Modern gene-mapping can include linkage studies, which correlate the presence of disease to broad genomic regions in either small or large family units, and association studies, which can narrow the location of a disease-predisposing trait ...
Gretchen Gibney,Andreas D Baxevanis
Gretchen Gibney
One of the most widely used interfaces for the retrieval of information from biological databases is the NCBI Entrez system. Entrez capitalizes on the fact that there are pre-existing, logical relationships between the individual entries fo...