Rashmi S Goswami,Shuko Harada
Rashmi S Goswami
Our understanding of genetic disease(s) has increased exponentially since the completion of human genome sequencing and the development of numerous techniques to detect genetic variants. These techniques have not only allowed us to diagnose...
Validation of Fluorescence In Situ Hybridization (FISH) for Chromosome 5 Monosomy and Deletion [0.03%]
荧光原位杂交(FISH)技术检测5号染色体单体和缺失的验证研究
Susan M Zneimer
Susan M Zneimer
In order to comply with regulations set by established local, state, and federal agencies and other regulatory organizations, such as the College of American Pathologists and the International Organization for Standardization, a clinical la...
Genetic Risk Scores [0.03%]
遗传风险评分
Robert P Igo Jr,Tyler G Kinzy,Jessica N Cooke Bailey
Robert P Igo Jr
Genome-wide variation data with millions of genetic markers have become commonplace. However, the potential for interpretation and application of these data for clinical assessment of outcomes of interest, and prediction of disease risk, is...
Approaches to Whole Mitochondrial Genome Sequencing on the Oxford Nanopore MinION [0.03%]
牛津纳米孔测序仪全线粒体基因组测序策略
Roxanne R Zascavage,Courtney L Hall,Kelcie Thorson et al.
Roxanne R Zascavage et al.
Traditional approaches for interrogating the mitochondrial genome often involve laborious extraction and enrichment protocols followed by Sanger sequencing. Although preparation techniques are still demanding, the advent of next-generation ...
Encoding Clinical Data with the Human Phenotype Ontology for Computational Differential Diagnostics [0.03%]
使用Human Phenotype Ontology对临床数据进行编码以实现计算差异诊断
Sebastian Köhler,N Christine Øien,Orion J Buske et al.
Sebastian Köhler et al.
The Human Phenotype Ontology (HPO) is a standardized set of phenotypic terms that are organized in a hierarchical fashion. It is a widely used resource for capturing human disease phenotypes for computational analysis to support differentia...
Overview of Specifications to the ACMG/AMP Variant Interpretation Guidelines [0.03%]
美国医学遗传学与基因组学学会/Association for Molecular Pathology变异解读指南综述
Steven M Harrison,Leslie G Biesecker,Heidi L Rehm
Steven M Harrison
The 2015 ACMG/AMP guidelines established a classification system for sequence variants; however, the broad scope of these guidelines necessitates specification of evidence types for specific genes or diseases of interest. Since publication ...
Adam C Naj
Adam C Naj
Genotype imputation infers missing genotypes in silico using haplotype information from reference samples with genotypes from denser genotyping arrays or sequencing. This approach can confer a number of improvements on genome-wide associati...
Chelsea N Zimmerman,J Daniel Sharer
Chelsea N Zimmerman
Carnitine is an essential molecule for mitochondrial beta-oxidation of long-chain fatty acids and other cellular functions. Several rare, inherited disorders of carnitine metabolism occur in humans, and secondary carnitine deficiency is an ...
Iraad F Bronner,Michael A Quail
Iraad F Bronner
In this unit, we describe a set of protocols and recommendations for Illumina library preparation. We review best practices in template quantitation methods; template fragmentation methodologies; solid-phase reverse-immobilization cleanup, ...
Methods for the Analysis and Interpretation for Rare Variants Associated with Complex Traits [0.03%]
复杂性状相关罕见变异的分析和解读方法研究进展
J Dylan Weissenkampen,Yu Jiang,Scott Eckert et al.
J Dylan Weissenkampen et al.
With the advent of Next Generation Sequencing (NGS) technologies, whole genome and whole exome DNA sequencing has become affordable for routine genetic studies. Coupled with improved genotyping arrays and genotype imputation methodologies, ...