Understanding Titin Variants in the Age of Next-Generation Sequencing-A Titanic Challenge.
Sign Up to like & getrecommendations! Published in 2018 at "JAMA neurology"
DOI: 10.1001/jamaneurol.2017.3068
Abstract: The titin gene (TTN), with its 364 exons, encodes the largest human protein. It gives rise to a dizzying array of alternatively spliced isoforms differentially expressed in various skeletal muscles, heart, and in development. Titin… read more here.
Keywords: challenge; ttn; gene; next generation ... See more keywords
Gene mutation analysis using next‐generation sequencing and its clinical significance in patients with myeloid neoplasm: A multi‐center study from China
Sign Up to like & getrecommendations! Published in 2023 at "Cancer Medicine"
DOI: 10.1002/cam4.5690
Abstract: Myeloid neoplasms (MN) tend to relapse and deteriorate. Exploring the genomic mutation landscape of MN using next‐generation sequencing (NGS) is a great measure to clarify the mechanism of oncogenesis and progression of MN. read more here.
Keywords: gene mutation; next generation; using next; generation sequencing ... See more keywords
Clinical implications of tumor‐based next‐generation sequencing in high‐grade epithelial ovarian cancer
Sign Up to like & getrecommendations! Published in 2023 at "Cancer"
DOI: 10.1002/cncr.34724
Abstract: Tumor‐based next‐generation sequencing is used inconsistently as a tool to tailor treatment of ovarian cancer, yet beyond detection of somatic BRCA1 and BRCA2 mutations, the clinical benefit is not well established. This study aimed to… read more here.
Keywords: tumor based; based next; ovarian cancer; next generation ... See more keywords
Evaluation and diagnostic value of next-generation sequencing analysis of residual liquid-based cytology specimens of pancreatic masses.
Sign Up to like & getrecommendations! Published in 2021 at "Cancer cytopathology"
DOI: 10.1002/cncy.22525
Abstract: BACKGROUND Liquid-based cytology (LBC) is a widely used method for processing specimens obtained by endoscopic biopsy. This study evaluated next-generation sequencing (NGS) analysis of LBC specimens to improve the diagnostic accuracy of pancreatic lesions. METHODS… read more here.
Keywords: analysis; generation sequencing; liquid based; based cytology ... See more keywords
Sequential evaluation of MUC promoter methylation using next‐generation sequencing‐based custom‐made panels in liquid‐based cytology specimens of pancreatic cancer
Sign Up to like & getrecommendations! Published in 2022 at "Diagnostic Cytopathology"
DOI: 10.1002/dc.25022
Abstract: As liquid‐based cytology (LBC) specimens preserve high‐quality DNA, clinical sequencing of LBC specimens using next‐generation sequencing (NGS) is becoming a common strategy. This study aimed to evaluate the feasibility of NGS‐based custom‐made panels for evaluating… read more here.
Keywords: liquid based; using next; based cytology; next generation ... See more keywords
Are we ready to detect nematode diversity by next generation sequencing?
Sign Up to like & getrecommendations! Published in 2017 at "Ecology and Evolution"
DOI: 10.1002/ece3.2998
Abstract: Abstract In a Technical Advance article, Porazinska et al. (2009, Molecular Ecology Resources, 9, 1439–1450) assessed next generation sequencing (NGS) as a method for metagenomic analysis of nematode diversity. We agree that NGS has great… read more here.
Keywords: next generation; generation sequencing; ecology; nematode diversity ... See more keywords
Computational methods and translational applications for targeted next‐generation sequencing platforms
Sign Up to like & getrecommendations! Published in 2022 at "Genes"
DOI: 10.1002/gcc.23023
Abstract: During the past decade, next‐generation sequencing (NGS) technologies have become widely adopted in cancer research and clinical care. Common applications within the clinical setting include patient stratification into relevant molecular subtypes, identification of biomarkers of… read more here.
Keywords: methods translational; computational methods; next generation; translational applications ... See more keywords
HLA‐HD: An accurate HLA typing algorithm for next‐generation sequencing data
Sign Up to like & getrecommendations! Published in 2017 at "Human Mutation"
DOI: 10.1002/humu.23230
Abstract: The accurate typing of human leukocyte antigen (HLA) alleles is critical for a variety of medical applications, such as genomic studies of multifactorial diseases, including immune system and inflammation‐related disorders, and donor selection in organ… read more here.
Keywords: hla alleles; accurate; hla typing; hla ... See more keywords
Targeted next‐generation sequencing in a large series of fetuses with severe renal diseases
Sign Up to like & getrecommendations! Published in 2022 at "Human Mutation"
DOI: 10.1002/humu.24324
Abstract: We report the screening of a large panel of genes in a series of 100 fetuses (98 families) affected with severe renal defects. Causative variants were identified in 22% of cases, greatly improving genetic counseling.… read more here.
Keywords: series; next generation; targeted next; severe renal ... See more keywords
Next‐generation sequencing errors due to genetic variation in WRAP53 encoding TCAB1 on chromosome 17
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DOI: 10.1002/humu.24469
Abstract: Next‐generation sequencing (NGS) is a valuable tool, but has limitations in sequencing through repetitive runs of single nucleotides (homopolymers). Pathogenic germline variants in WRAP53 encoding telomere Cajal body protein 1 (TCAB1) are a known cause… read more here.
Keywords: chr17 606; sequencing errors; next generation; wrap53 encoding ... See more keywords
Characteristics and response to next‐generation sequencing‐guided therapy in locally advanced or metastatic esophageal cancer
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Cancer"
DOI: 10.1002/ijc.34315
Abstract: Esophageal cancer (EC) is a main cause of cancer‐related deaths. However, genomic alterations and the clinical value of next‐generation sequencing (NGS) in advanced or metastatic EC for precision therapy remain largely unclear. Herein, we performed… read more here.
Keywords: esophageal cancer; therapy; next generation; advanced metastatic ... See more keywords