LIMN
发表于 2025-3-30 08:14:39
http://reply.papertrans.cn/67/6663/666224/666224_51.png
Reverie
发表于 2025-3-30 13:00:53
Next-Generation Sequencing for the Diagnosis of Monogenic Disorders of Insulin Secretion,atment of patients with these rare conditions. These disorders include single-gene defects associated with increased insulin secretion, causing hypoglycemia, and decreased insulin secretion, resulting in diabetes..Mutations in at least 40 genes have been identified through studies using genetic link
博识
发表于 2025-3-30 18:26:54
Application of NGS in the Diagnosis of Cardiovascular Genetic Diseases,the myocardium, and the heart’s electrical circuit, and congenital heart disease (CHD). In the etiology of most CVDs, a clear hereditary component has been demonstrated. CVDs can be divided in two major categories: the monogenic and the polygenic/multifactorial forms and have long been at the forefr
EWER
发表于 2025-3-30 21:39:03
Comprehensive Analyses of the Mitochondrial Genome,variant (SNV) across the entire coding regions, as well as structural variations such as large deletions with mapping of the breakpoints. Traditionally, diagnosis of mtDNA-related disorders is achieved by employing step-wise procedures, such as PCR based Sanger sequencing for SNV, real time quantita
松软无力
发表于 2025-3-31 04:45:44
http://reply.papertrans.cn/67/6663/666224/666224_55.png
多嘴
发表于 2025-3-31 05:58:51
Family-Based Next-Generation Sequencing Analysis, of NGS, family-based sequencing analysis has been increasingly used to identify causal genes for Mendelian disorders and to aid the rare variants association analysis for common complex traits. By incorporating relatedness among family members, several family-based variant calling algorithms have b
细微的差异
发表于 2025-3-31 10:51:44
Next Generation of Carrier Screening,esting used targeted genotyping panels to detect common mutations among specific ethnic groups. While the sensitivity of this approach is generally acceptable, private or ultra-rare mutations will be missed. Next generation sequencing (NGS) has been adopted in recent years for carrier screening in o
Orchiectomy
发表于 2025-3-31 17:15:49
http://reply.papertrans.cn/67/6663/666224/666224_58.png
吞噬
发表于 2025-3-31 18:28:36
http://image.papertrans.cn/n/image/666224.jpg
刚毅
发表于 2025-4-1 01:25:00
https://doi.org/10.1007/978-3-319-56418-0NGS; bioinformatics; exome; genetics; genomics; mitochondrial