Genomics
靶向深度测序
Targeted deep sequencingA sequencing strategy that enriches specific genomic regions to achieve high coverage depth, enabling the detection of low-frequency somatic mutations and mosaic chromosomal abnormalities. / 一种通过富集特定基因组区域以实现高覆盖深度测序的策略，能够检测低频体细胞突变和镶嵌染色体异常。
- Knowledge type
- 工艺技术
- First proposed or discovered
- Proposer
- Turkey Farm member
- Creator
- 农场主
- Last updated
- 2026-10-28 21:02:32
Sub-knowledge points
Detection of mosaic loss of Y chromosome (mLOY)Detection of clonal hematopoiesis of indeterminate potential (CHIP) mutationsAnalysis of genomic instability in aging
Higher-order knowledge points
Clonal hematopoiesis (CH)Age-related diseasesAcute aortic syndrome (AAS)Acute coronary syndrome (ACS)
Main parameters and performance indicators
Target region: Genomic loci of interest (e.g., UTY, KDM5D)Depth: High coverage required for low-frequency variant detection
Open problems
Optimizing cost-effectiveness for large-scale screeningStandardizing thresholds for mosaic loss of Y chromosome (mLOY)
Related literature
ranked by community starsAn effective method based on targeted deep sequencing to simultaneously estimate mosaic loss of Y chromosome and CHIP-related mutationsOpen source
Related products and links
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Creation and modification trail
1 recordsRecord title: Targeted deep sequencing.
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