Resolving Breakpoints of Chromosomal Rearrangements at the Nucleotide Level Using Sanger Sequencing [0.03%]
利用桑格测序在核苷酸水平上解析染色体重排的断裂点
Katarena Nalbandian,Raul E Piña-Aguilar,Cynthia C Morton
Katarena Nalbandian
Novel cytogenetic tools are increasingly based on genome sequencing for detecting chromosomal abnormalities. Different sequence-based techniques optimized for diagnosis of structural variants can be useful for narrowing down the localizatio...
Jeffrey R Botkin
Jeffrey R Botkin
Genetic research often utilizes or generates information that is potentially sensitive to individuals, families, or communities. For these reasons, genetic research may warrant additional scrutiny from investigators and governmental regulat...
A Guide to Using ClinTAD for Interpretation of DNA Copy Number Variants in the Context of Topologically Associated Domains [0.03%]
ClinTAD：用于拓扑关联域上下文中DNA拷贝数变异解读的指南
Jacob D Spector,Arun P Wiita
Jacob D Spector
DNA copy number variants (CNVs) are routinely evaluated as part of clinical diagnosis in both the prenatal and postnatal genetic settings. Current guidelines for interpreting the potential clinical significance of these CNVs, typically iden...
The AD Knowledge Portal: A Repository for Multi-Omic Data on Alzheimer's Disease and Aging [0.03%]
AD知识门户：阿尔茨海默病和衰老的多组学数据存储库
Anna K Greenwood,Kelsey S Montgomery,Nicole Kauer et al.
Anna K Greenwood et al.
The AD Knowledge Portal (adknowledgeportal.org) is a public data repository that shares data and other resources generated by multiple collaborative research programs focused on aging, dementia, and Alzheimer's disease (AD). In this article...
Lixing Yang
Lixing Yang
Profiling genetic variants-including single nucleotide variants, small insertions and deletions, copy number variations, and structural variations (SVs)-from both healthy individuals and individuals with disease is a key component of geneti...
Identification and Genotyping of Transposable Element Insertions From Genome Sequencing Data [0.03%]
从基因组测序数据中识别和分型转座元件插入事件
Chong Chu,Boxun Zhao,Peter J Park et al.
Chong Chu et al.
Transposable element (TE) mobilization is a significant source of genomic variation and has been associated with various human diseases. The exponential growth of population-scale whole-genome sequencing and rapid innovations in long-read s...
Jason P Smith,Nathan C Sheffield
Jason P Smith
ATAC-seq, the assay for transposase-accessible chromatin using sequencing, is a quick and efficient approach to investigating the chromatin accessibility landscape. Investigating chromatin accessibility has broad utility for answering many ...
Introducing an Expanded Trinucleotide Repeat Tract into the Human Genome for Huntington's Disease Modeling In Vitro [0.03%]
体内亨廷顿舞蹈病建模的扩增三核苷酸重复序列插入人类基因组模型
Tuyana Malankhanova,Michael Sorokin,Sergey Medvedev et al.
Tuyana Malankhanova et al.
In neurodegeneration studies, researchers are faced with problems such as limited material availability and late disease manifestation. Cell models provide the opportunity to investigate molecular mechanisms of pathogenesis. Moreover, genom...
Quantitative Assessment of Parental Somatic Mosaicism for Copy-Number Variant (CNV) Deletions [0.03%]
拷贝数变异缺失的父母体细胞镶嵌定量评估研究
Qian Liu,Christopher M Grochowski,Weimin Bi et al.
Qian Liu et al.
As genome sequencing methodologies have become more sensitive in detecting low-frequency rare-variant events, the link between post-zygotic mutagenesis and somatic mosaicism in the etiology of several human genetic conditions other than can...
Junyu Zhang,Yanyi Yao,Haixian He et al.
Junyu Zhang et al.
Clinical interpretation of DNA sequence variants is a critical step in reporting clinical genetic testing results. Application of next-generation sequencing technology in molecular genetic testing has facilitated diagnoses of genetic disord...