Next generation sequencing to characterize mitochondrial genomic DNA heteroplasmy [0.03%]
下一代测序技术表征线粒体基因组DNA异质性
Taosheng Huang
Taosheng Huang
This protocol describes the methodology to characterize mitochondrial DNA (mtDNA) heteroplasmy by parallel sequencing. Mitochondria play an important role in essential cellular functions. Each eukaryotic cell contains hundreds of mitochondr...
The UCSC Genome Browser [0.03%]
UCSC基因组浏览器
Donna Karolchik,Angie S Hinrichs,W James Kent
Donna Karolchik
The University of California Santa Cruz (UCSC) Genome Browser is a popular Web-based tool for quickly displaying a requested portion of a genome at any scale, accompanied by a series of aligned annotation "tracks." The annotations generated...
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 Toolkit contains 295 mea...
Brian L Yaspan,Olivia J Veatch
Brian L Yaspan
Genome-wide association studies (GWAS) are a standard approach for investigating the relationship of common variation within the human genome to a given phenotype of interest. However, single-allele association results published for many GW...
Lisbeth B Møller,Julia D Hicks,Courtney S Holmes et al.
Lisbeth B Møller et al.
Techniques for the diagnosis of copper transport disorders are increasingly important due to recent recognition of previously unappreciated clinical phenotypes and emerging advances in the treatment of these conditions. Here, we collate the...
J Daniel Sharer
J Daniel Sharer
Biochemical genetics focuses on the pathophysiology, diagnosis, and treatment of inherited metabolic disorders. While individually rare, the combined incidence of these diseases is likely greater than 1:3000 live births. These conditions ma...
Diane Gilbert-Diamond,Jason H Moore
Diane Gilbert-Diamond
The goal of this unit is to introduce gene-gene interactions (epistasis) as a significant complicating factor in the search for disease susceptibility genes. This unit begins with an overview of gene-gene interactions and why they are likel...
Testing hygrometers used in cytogenetics laboratories for metaphase preparation [0.03%]
用于制备中期染色体的细胞遗传学实验室湿度计的检测
Thomas Hartley,Karen Dun
Thomas Hartley
This protocol describes procedures for checking small laboratory hygrometers for accuracy at three relative humidity (rh) levels. The work arose out of the need to provide laboratory assessors with documentary evidence that the hygrometer u...
Azra H Ligon,Cynthia C Morton,Frederick R Bieber et al.
Azra H Ligon et al.
This appendix, developed by the staff at the Clinical Cytogenetics Laboratory at the Brigham and Women's Hospital, includes a comprehensive list of current "macros" or standardized statements used to facilitate reporting of cytogenetic resu...
Quality assurance and quality improvement in U.S. clinical molecular genetic laboratories [0.03%]
美国临床分子遗传学实验室的质量保证和质量改进措施
Bin Chen,C Sue Richards,Jean Amos Wilson et al.
Bin Chen et al.
A robust quality-assurance program is essential for laboratories that perform molecular genetic testing to maintain high-quality testing and be able to address challenges associated with performance or delivery of testing services as the us...