biostudies-literatureLv BNational Natural Science Foundation of China111https://www.ebi.ac.uk/biostudies/studies/S-EPMC9358875biostudies-literatureUnknown14(1)<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 siDiabetology & metabolic syndromeCombined analysis of whole-exome sequencing and RNA sequencing in type 2 diabetes mellitus patients with thirst and fatigue.PMC9358875NSFC81774171Hu YJiang GLv BTan FYang XLiu XZhu JHe ZWang TLi BWang YAn TWu YfalseCombined analysis of whole-exome sequencing and RNA sequencing in type 2 diabetes mellitus patients with thirst and fatigue.<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 si2022-01-01T00:00:00Z2022 Aug2026-04-08T09:45:31.491Z2025-02-19T01:55:40.582ZS-EPMC93588753594169110.1186/s13098-022-00884-z