Development and evaluation of a rapid and cost-efficient NGS-based MHC class I genotyping method for macaques by using a prevalent short-read sequencer.
Sign Up to like & getrecommendations! Published in 2021 at "Immunogenetics"
DOI: 10.1007/s00251-020-01199-x
Abstract: Rhesus macaque is one of the most widely used primate model animals for immunological research of infectious diseases including human immunodeficiency virus (HIV) infection. It is well known that major histocompatibility complex (MHC) class I… read more here.
Keywords: short read; method; ngs based; genotyping method ... See more keywords
Clinical application of an NGS-based method in the preimplantation genetic testing for Duchenne muscular dystrophy
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Assisted Reproduction and Genetics"
DOI: 10.1007/s10815-021-02126-z
Abstract: To determine whether next-generation sequencing (NGS) could be used to directly detect different mutations of Duchenne muscular dystrophy (DMD) during preimplantation genetic testing (PGT). From Sep. 2016 to Aug. 2018, a total of six couples… read more here.
Keywords: genetic testing; muscular dystrophy; preimplantation; ngs based ... See more keywords
The utility and perspectives of NGS-based methods in BSL-3 and BSL-4 laboratory – sequencing and analysis strategies
Sign Up to like & getrecommendations! Published in 2018 at "Briefings in Functional Genomics"
DOI: 10.1093/bfgp/elx033
Abstract: Abstract Modern diagnostics is in general based on molecular biology methods. Nowadays sequencing-based methods, especially whole genome sequencing, are becoming increasingly important. Implementation of such methods into routine diagnostic of highly dangerous pathogens, like Bacillus… read more here.
Keywords: perspectives ngs; utility perspectives; bsl laboratory; ngs based ... See more keywords
Recommendations to improve the clinical adoption of NGS‐based cancer diagnostics in Singapore
Sign Up to like & getrecommendations! Published in 2020 at "Asia-Pacific Journal of Clinical Oncology"
DOI: 10.1111/ajco.13339
Abstract: Next‐generation sequencing (NGS)‐based diagnostics have demonstrated clinical utility in predicting improved survival benefits with targeted treatment in certain cancer types, and positive cost–benefit in several healthcare systems. However, clinical adoption in Singapore remains low despite… read more here.
Keywords: clinical adoption; ngs based; adoption ngs; cancer ... See more keywords
Abstract 4315: NGS-based reference materials for fusion and somatic variant detection in myeloid cancers
Sign Up to like & getrecommendations! Published in 2020 at "Endocrinology"
DOI: 10.1158/1538-7445.am2020-4315
Abstract: The large range of genetic aberrations and genes involved Myeloid malignancies, clonal diseases of hematopoietic progenitor cells which can lead to accumulation of immature blast cells in the bone marrow and peripheral blood, make Next… read more here.
Keywords: detection; reference materials; rna; reference ... See more keywords
Clinical utility of next-generation sequencing (NGS)-based genomic profiling of advanced solid tumors in routine clinical practice.
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Clinical Oncology"
DOI: 10.1200/jco.2018.36.15_suppl.e24157
Abstract: e24157Background: Next-generation sequencing (NGS)-based genomic profiling of advanced solid tumors has given a new perspective to personalized patient care in oncology. In a single run, NGS allows... read more here.
Keywords: sequencing ngs; ngs based; next generation; oncology ... See more keywords
NGS-Based BRCA1, BRCA2, and PALB2 Mutation Testing in Iranian Population With Breast Cancer
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Global Oncology"
DOI: 10.1200/jgo.18.84100
Abstract: Background: Identification of individuals who have a pathogenic mutation in breast cancer susceptibility genes is an important step to take advantage of genetic counseling, screening, and potential... read more here.
Keywords: based brca1; ngs based; mutation; breast cancer ... See more keywords
NGS-based mtDNA profiling could reveal genetic alterations in Schizophrenia.
Sign Up to like & getrecommendations! Published in 2021 at "Current topics in medicinal chemistry"
DOI: 10.2174/1568026621666210521155500
Abstract: BACKGROUND Schizophrenia is a complex disease with a putative genetic background. It was hypothesized that impaired mitochondrial function due to genetic alterations in mitochondrial DNA (mtDNA) could contribute to neurological conditions, including mental disorders. The… read more here.
Keywords: schizophrenia; mtdna; based mtdna; ngs based ... See more keywords
Improved NGS-based detection of microsatellite instability using tumor-only data
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Oncology"
DOI: 10.3389/fonc.2022.969238
Abstract: Microsatellite instability (MSI) is a molecular signature of mismatch repair deficiency (dMMR), a predictive marker of immune checkpoint inhibitor therapy response. Despite its recognized pan-cancer value, most methods only support detection of this signature in… read more here.
Keywords: microsatellite instability; tumor data; ngs based; detection ... See more keywords
OncoPan®: An NGS-Based Screening Methodology to Identify Molecular Markers for Therapy and Risk Assessment in Pancreatic Ductal Adenocarcinoma
Sign Up to like & getrecommendations! Published in 2022 at "Biomedicines"
DOI: 10.3390/biomedicines10051208
Abstract: Pancreatic cancer has a high morbidity and mortality with the majority being PC ductal adenocarcinomas (PDAC). Whole genome sequencing provides a wide description of genomic events involved in pancreatic carcinogenesis and identifies putative biomarkers for… read more here.
Keywords: methodology; oncopan ngs; molecular markers; ngs based ... See more keywords
Revisiting Genetic Epidemiology with a Refined Targeted Gene Panel for Hereditary Hearing Impairment in the Taiwanese Population
Sign Up to like & getrecommendations! Published in 2023 at "Genes"
DOI: 10.3390/genes14040880
Abstract: Hearing impairment is one of the most common sensory disorders in children, and targeted next-generation sequencing (NGS)-based genetic examinations can assist in its prognostication and management. In 2020, we developed a simplified 30-gene NGS panel… read more here.
Keywords: hearing impairment; panel; ngs based; gene ... See more keywords