Various types of analyses performed over multi-omics data are driven today by next-generation sequencing (NGS) techniques that produce large volumes of DNA/RNA sequences. Although many tools allow for parallel processing of NGS data in a Big Data distributed environment, they do not facilitate the improvement of the quality of NGS data for a large scale in a simple declarative manner. Meanwhile, large sequencing projects and routine DNA/RNA sequencing associated with molecular profiling of diseases for personalized treatment require both good quality data and appropriate infrastructure for efficient storing and processing of the data. To solve the problems, we adapt the concept of Data Lake for storing and processing big NGS data. We also propose a dedicated library that allows cleaning the DNA/RNA sequences obtained with single-read and paired-end sequencing techniques. To accommodate the growth of NGS data, our solution is largely scalable on the Cloud and may rapidly and flexibly adjust to the amount of data that should be processed. Moreover, to simplify the utilization of the data cleaning methods and implementation of other phases of data analysis workflows, our library extends the declarative U-SQL query language providing a set of capabilities for data extraction, processing, and storing. The results of our experiments prove that the whole solution supports requirements for ample storage and highly parallel, scalable processing that accompanies NGS-based multi-omics data analyses.
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http://dx.doi.org/10.3389/fgene.2021.699280 | DOI Listing |
Sci Rep
January 2025
Department of Laboratory Medicine, West China Hospital, Sichuan University, Chengdu, China.
Hepatocellular carcinoma (HCC) is the most prevalent form of liver cancer, and ranks among the most lethal malignancies globally, primarily due to its high rates of recurrence and metastasis. Despite the urgency, no reliable biomarkers currently exist for predicting tumor recurrence in HCC. Telomerase reverse transcriptase (TERT) promoter mutations (TERTpm) and cellular tumor antigen p53 mutations (TP53m) have been frequently documented in HCC, but their combined clinical significance remains undefined.
View Article and Find Full Text PDFPLoS One
January 2025
Department of Computer Science, Faculty of Computing, Federal University of Lafia, Lafia, Nasarawa State, Nigeria.
JBMR Plus
February 2025
Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Helsinki 00014, Finland.
Hypophosphatemic rickets is a rare bone disease characterized by short stature, bone deformities, impaired bone mineralization, and dental problems. Most commonly, hypophosphatemic rickets is caused by pathogenic variants in the X-chromosomal gene, but autosomal dominant and recessive forms also exist. We investigated a Finnish family in which the son (index, 29 yr) and mother (56 yr) had hypophosphatemia since childhood.
View Article and Find Full Text PDFJTO Clin Res Rep
February 2025
Department of Radiology, Icahn School of Medicine at Mount Sinai, New York, New York.
Introduction: Limited information exists on next-generation sequencing (NGS) success for lung tumors of 30 mm or less. We aimed to compare NGS success rates across biopsy techniques for these tumors, assess DNA sequencing quality, and verify reliability against surgical resection results.
Methods: We used data from the Initiative for Early Lung Cancer Research on Treatment study, including patients with lung tumors measuring 30 mm or less who had surgery and NGS on biopsies since 2016.
Ann Hematol
January 2025
Department of Hematology, The First Affiliated Hospital of Zhejiang Chinese Medical University (Zhejiang Provincial Hospital of Traditional Chinese Medicine), Hangzhou, China.
Aplastic anemia (AA) is a life-threatening bone marrow failure syndrome. The advent of next-generation sequencing (NGS) has shed light on the link between somatic mutations (SM) and the efficacy of immunosuppressive therapy (IST) in AA patients. However, the relationship between SM and hematopoietic stem cell transplantation (HSCT) has not been extensively explored.
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