“Omics” Technologies

Pereira, David M.; Fernandes, João; Valentão, Patrı́cia; Andrade, Paula B.

doi:10.1016/b978-0-12-800687-0.00003-7

Principles of Translational Science in Medicine 2015

DOI: 10.1016/b978-0-12-800687-0.00003-7

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“Omics” Technologies

David M. Pereira¹,

João Fernandes²,

Patrı́cia Valentão³

et al.

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Cited by 3 publications

(1 citation statement)

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“…Several solutions to these problems have been proposed, each resulting in a different set of substitution scores [8,9].…”

mentioning

confidence: 99%

Identification of genes in a genomic DNA sequence

Mammadova,

Huseynova

2023

InterConf+

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Today, newer pyrosequencing methods have drastically cut the cost of sequencing and may eventually allow every person the possibility of personalized genome information. Being able to read how our genes are expressed offers the promise of advanced medical treatments, but it will certainly require considerable work to generate, understand, organize, and apply this massive amount of data to human disease. This study describes the results of the CFTR, MEFV, GALT, PAH, BCKDHB and DBT genes analysis of Azerbaijanian patients. The molecular diagnostics methods using specific primers to identify CFTR, MEFV, GALT, PAH, BCKDHB and DBT genes many mutations. A total 15 different mutations (R261Q, V245V, P281L, R241C, L385L, V399V, E280K, R261X, A434D, R176X, Ex6-96A> G, R241C, R243Q, R252Q, Y356X) and 2 different polymorphisms (Q232Q,V245V) were detected of the PAH gene. 4 different mutations (P325L, H132Q, Q334K, N314D ) were detected of the GALT gene, 6 different mutations (Phe508del, Phe508del/5T, R117H/R334W, R553X and 965 (T-C)) were found in the CFTR gene, polymorphisms (D102D, G138G, A165A, R202Q, R314R, G474G, G476G, D510D) were detected of the MEFV gene, 2 different mutations were found of the BCKDHB gene and one mutation detected of the DBT gene in patients from Azerbaijani population. To prophylaxis the phenylketonuria, galactosemia, maple syrup urine disease, cystic fibrosis disease and Fammilian Mediterranian Fever it is recommended to screen genetically newborns, to consult medical-genetically risky families, and to carry out prenatal diagnostics during pregnancies for those families.

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“…Several solutions to these problems have been proposed, each resulting in a different set of substitution scores [8,9].…”

mentioning

confidence: 99%

Identification of genes in a genomic DNA sequence

Mammadova,

Huseynova

2023

InterConf+

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Next generation sequencing: Forensic applications and policy considerations

Browne,

Freeman

2024

WIREs Forensic Science

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Next generation sequencing (NGS) or massively parallel sequencing (MPS) is a high‐throughput technology that can be used to analyze DNA and RNA molecules with greater sensitivity, scalability, and speed than traditional Sanger sequencing. NGS systems are slowly gaining popularity in forensic science and may eventually become the future of forensic DNA analysis. The data generated can be utilized to conduct an array of forensic biology analyses such as short tandem repeats (STR) profiling, forensic genetic genealogy, predictive DNA phenotyping, and more. However, the adoption of NGS for forensic casework is associated with a lot of ethical, social, and legal concerns. This article provides a comprehensive review of NGS systems, data analysis, and forensic applications. It also provides policy considerations that aim to reduce harm and bias, while promoting informed consent, standardization, transparency, and accountability.This article is categorized under: Forensic Biology > Interpretation of Biological Evidence Forensic Biology > Ethical and Social Implications Forensic Biology > Forensic DNA Technologies

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High-throughput sequencing approaches applied to SARS-CoV-2

Ong’era¹,

Mohammed²,

Makori³

et al. 2023

Wellcome Open Res

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High-throughput sequencing is crucial for surveillance and control of viral outbreaks. During the ongoing coronavirus disease 2019 (COVID-19) pandemic, advances in the high-throughput sequencing technology resources have enhanced diagnosis, surveillance, and vaccine discovery. From the onset of the pandemic in December 2019, several genome-sequencing approaches have been developed and supported across the major sequencing platforms such as Illumina, Oxford Nanopore, PacBio, MGI DNBSEQTM and Ion Torrent. Here, we share insights from the sequencing approaches developed for sequencing of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) between December 2019 and October 2022.

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“Omics” Technologies

Cited by 3 publications

References 83 publications

Identification of genes in a genomic DNA sequence

Identification of genes in a genomic DNA sequence

Next generation sequencing: Forensic applications and policy considerations

High-throughput sequencing approaches applied to SARS-CoV-2

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