{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Lv B"],"funding":["National Natural Science Foundation of China"],"pagination":["111"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9358875"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["14(1)"],"pubmed_abstract":["<h4>Background</h4>The principal objective of this study was to gain a better understanding of the mechanisms of type 2 diabetes mellitus (T2DM) patients with fatigue (D-T2DM) through exome and transcriptome sequencing.<h4>Methods</h4>After whole-exome sequencing on peripheral blood of 6 D-T2DM patients, the consensus mutations were screen out and analyzed by a series of bioinformatics analyses. Then, we combined whole-exome sequencing and transcriptome sequencing results to find the important genes that changed at both the DNA and RNA levels.<h4>Results</h4>The results showed that a total of 265,393 mutation sites were found in D-T2DM patients compared with normal individuals, 235 of which were consensus mutations shared with D-T2DM patients. These genes significantly enriched in HIF-1 si"],"journal":["Diabetology & metabolic syndrome"],"pubmed_title":["Combined analysis of whole-exome sequencing and RNA sequencing in type 2 diabetes mellitus patients with thirst and fatigue."],"pmcid":["PMC9358875"],"funding_grant_id":["NSFC81774171"],"pubmed_authors":["Hu Y","Jiang G","Lv B","Tan F","Yang X","Liu X","Zhu J","He Z","Wang T","Li B","Wang Y","An T","Wu Y"],"additional_accession":[]},"is_claimable":false,"name":"Combined analysis of whole-exome sequencing and RNA sequencing in type 2 diabetes mellitus patients with thirst and fatigue.","description":"<h4>Background</h4>The principal objective of this study was to gain a better understanding of the mechanisms of type 2 diabetes mellitus (T2DM) patients with fatigue (D-T2DM) through exome and transcriptome sequencing.<h4>Methods</h4>After whole-exome sequencing on peripheral blood of 6 D-T2DM patients, the consensus mutations were screen out and analyzed by a series of bioinformatics analyses. Then, we combined whole-exome sequencing and transcriptome sequencing results to find the important genes that changed at both the DNA and RNA levels.<h4>Results</h4>The results showed that a total of 265,393 mutation sites were found in D-T2DM patients compared with normal individuals, 235 of which were consensus mutations shared with D-T2DM patients. These genes significantly enriched in HIF-1 si","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Aug","modification":"2026-04-08T09:45:31.491Z","creation":"2025-02-19T01:55:40.582Z"},"accession":"S-EPMC9358875","cross_references":{"pubmed":["35941691"],"doi":["10.1186/s13098-022-00884-z"]}}