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Sanger sequencing
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Nghiên cứu mô tả trường hợp thai phụ 26 tuổi mang thai lần đầu, thai 17 tuần siêu âm phát hiện ngắn các xương dài và gập góc, giảm mật độ xương, bàn chân vẹo. Xét nghiệm giải trình tự vùng mã hóa của các gen (Exome sequencing, ES) cho mẫu ối và giải trình tự Sanger cho mẫu máu bố mẹ.
8p
vikoch
27-06-2024
1
1
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Microsatellite expansion, such as trinucleotide repeat expansion (TRE), is known to cause a number of genetic diseases. Sanger sequencing and next-generation short-read sequencing are unable to interrogate TRE reliably. We developed a novel algorithm called RepeatHMM to estimate repeat counts from long-read sequencing data.
16p
vioraclene
31-03-2024
9
2
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This case-control study aimed to determine the association between PD-1.9 polymorphism and the risk of HCC in the cohort of chronic HBV-infected patients. Subject and method: Genotyping of PD-1.9 polymorphism was performed by direct sanger sequencing in 499 HBV-infected patients.
7p
vishekhar
01-11-2023
0
0
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To explore the potential pathogenesis and clinical features of second primary glioblastoma (spGBM) follow‑ ing first primary renal cell carcinoma (fpRCC). Patients with spGBM after fpRCC were enrolled from our institution and the SEER dataset. Sanger sequencing, whole genome sequencing, and immunohistochemistry were used to detect molecular biomarkers.
8p
vischultz
20-10-2023
5
1
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Collagen type VI-related disorders consist of Ullrich congenital muscular dystrophies (UCMD) and Bethlem myopathy, in which these entities are at two opposite extremes of the phenotype continuum. Clinical characteristics include proximal joint contracture, distal joint hyperlaxity, generalized muscle weakness, normal cognitive function, and pulmonary insufficiency.
9p
vimulcahy
18-09-2023
3
3
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Glycogen storage diseases (GSDs) are rare inherited metabolic disorders characterized by the absence of required enzymes for the glycogen degradation metabolism. GSD can be divided into more than 12 types based on enzyme deficiency and affected tissues, in which glycogen storage disease type Ia (GSD1a or von Gierke disease) is a liver-affecting form.
7p
vimulcahy
18-09-2023
6
3
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To develop a method using polymerase chain reaction with confronting two-pair primers (PCR-CTPP) to genotype MTHFR rs1801133 polymorphism in Vietnamese people. Methods: Fifteen DNA samples from a group of Vietnamese people were used to evaluate this assay. The Sanger sequencing method was used to identify the standard genotypes of the rs1801133 polymorphism.
7p
viwhitewolf
11-07-2023
1
1
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To determine the genotype frequency of rs1059513 STAT6 polymorphism and its correlation with clinical, paraclinical characteristics, and cancer risk in Hepatitis B Surface Antigen positive (HBsAg (+)) hepatocellular carcinoma (HCC) patients.
13p
viwolverine
07-07-2023
9
1
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The application of WES in identifying mutations in ADPKD has been widely performed by researchers worldwide; however, in Vietnam, the utilization of WES in ADPKD studies is still limited. In this study, we applied WES to identify pathogenic variants for Vietnamese ADPKD patients and validated the obtained variants in the family using Sanger sequencing.
7p
vihawkeye
26-05-2023
6
2
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Bacterial infections have a substantial impact on global health and can become serious if misdiagnosed with several diseases related to the central nervous, cardiovascular, and respiratory systems. The prognosis in patients with infectious disease strongly depends on early diagnosis and appropriate antibiotic therapy.
8p
vicaptainmarvel
21-04-2023
4
2
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Single-strand conformational polymorphism (SSCP) is still a frequently used genotyping method across different fields for the detection of single nucleotide polymorphisms (SNPs) due to its simplicity, requirement for basic equipment accessible in most laboratories and low cost.
12p
vinarcissa
21-03-2023
3
1
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For this purpose, primary hBM-MSCs with wild type (WT, C/C), heterozygote (HTZ, C/T) and homozygote (HMZ, T/T) for the MTHFR gene were obtained with ethical committee permission and donor informed. Mutations were detected using RFLP and Sanger sequencing methods from genomic DNA isolated from cells, colonization properties were investigated by CFU-F test and proliferative differences were investigated by MTT test.
13p
lyhuyenthu
31-01-2023
7
2
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Đa hình đơn nucleotide (SNP) của gen PDCD-1 được cho là có liên quan đến sự thay đổi phiên mã PD-1 là phối tử quan trọng tham gia ức chế điểm kiểm soát miễn dịch tế bào T vì vậy có thể đóng vai trò quan trọng trong quá trình sinh lý bệnh của bệnh viêm gan B mạn tính.
11p
vialexanderfleming
09-02-2022
17
2
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The study included 114 postmenopausal osteoporosis patients. BMD was measured in the lumbar spine and the femoral neck. Genetic analysis was performed using Sanger sequencing. Genotypes data for 263 female European population group were obtained from the 1000Genomes database.
7p
lazzaro
30-12-2021
8
0
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Bài giảng Công nghệ Gene: Chương 3 Giải trình tự Gene, bộ Gene, cung cấp cho người học những kiến thức như: Giải trình tự gene và bộ gene bằng phương pháp Sanger (chain-termination DNA sequencing); Giải trình tự gene và bộ gene bằng phương pháp mới (NGS-next generation sequencing): Illumina; Ứng dụng của kỹ thuật giải trình tự DNA. Mời các bạn cùng tham khảo!
15p
caphesuadathemhanh
03-12-2021
19
2
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Next generation sequencing (NGS) has become a common technology for clinical genetic tests. The quality of NGS calls varies widely and is influenced by features like reference sequence characteristics, read depth, and mapping accuracy. With recent advances in NGS technology and software tools, the majority of variants called using NGS alone are in fact accurate and reliable. However, a small subset of difficult-to-call variants that still do require orthogonal confirmation exist.
9p
vibeauty
23-10-2021
10
1
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Although high-throughput sequencers (HTS) have largely displaced their Sanger counterparts, the short read lengths and high error rates of most platforms constrain their utility for amplicon sequencing. The present study tests the capacity of single molecule, real-time (SMRT) sequencing implemented on the SEQUEL platform to overcome these limitations, employing 658 bp amplicons of the mitochondrial cytochrome c oxidase I gene as a model system.
14p
vibeauty
23-10-2021
15
1
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DNA sequencing is at the core of many molecular biology laboratories. Despite its long history, there is a lack of user-friendly Sanger sequencing data analysis tools that can be run interactively as a web application or at large-scale in batch from the command-line.
9p
vijeeni2711
24-07-2021
14
0
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Viruses have high mutation rates and generally exist as a mixture of variants in biological samples. Next-generation sequencing (NGS) approaches have surpassed Sanger for generating long viral sequences, yet how variants affect NGS de novo assembly remains largely unexplored.
12p
vijeeni2711
24-07-2021
11
0
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The marine diatoms Thalassiosira pseudonana and Phaeodactylum tricornutum are valuable model organisms for exploring the evolution, diversity and ecology of this important algal group. Their reference genomes, published in 2004 and 2008, respectively, were the product of traditional Sanger sequencing.
25p
vilichoo2711
23-06-2021
12
1
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