Optic disc localization using interference map and localized segmentation using grab cut

Many eye diseases such as Diabetic Retinopathy, Cataract, Glaucoma have their symptoms shown in the retina. To detect such diseases, the normal and abnormal retina should be differentiated. The Optic disc has been a prominent landmark for finding abnormalities in the retina. In this paper, we attempted two methods to localize the optic disc using the segmentation which is done on the interference map that is obtained from a family of generalized motion patterns of the image. In brief, we are adding motion to the image so that the bright regions can be extracted well by improving the contrast between the object and its background in the image. Then, the region of interest has been taken and binary image has been generated. In the 1st method, by thresholding, the optic disc has been segmented and its centre has been found. In the second method, the grab cut is used for segmentation. Both of our methods show better results when compared with the competing method

Comprehensive genomic analysis identifies pathogenic variants in maturity-onset diabetes of the young (MODY) patients in South India

Abstract Background Maturity-onset diabetes of the young (MODY) is an early-onset, autosomal dominant form of non-insulin dependent diabetes. Genetic diagnosis of MODY can transform patient management. Earlier data on the genetic predisposition to MODY have come primarily from familial studies in populations of European origin. Methods In this study, we carried out a comprehensive genomic analysis of 289 individuals from India that included 152 clinically diagnosed MODY cases to identify variants in known MODY genes. Further, we have analyzed exome data to identify putative MODY relevant variants in genes previously not implicated in MODY. Functional validation of MODY relevant variants was also performed. Results We found MODY 3 (HNF1A; 7.2%) to be most frequently mutated followed by MODY 12 (ABCC8; 3.3%). They together account for ~ 11% of the cases. In addition to known MODY genes, we report the identification of variants in RFX6, WFS1, AKT2, NKX6–1 that may contribute to development of MODY. Functional assessment of the NKX6–1 variants showed that they are functionally impaired. Conclusions Our findings showed HNF1A and ABCC8 to be the most frequently mutated MODY genes in south India. Further we provide evidence for additional MODY relevant genes, such as NKX6–1, and these require further validation

Additional file 1: Table S1a. of Comprehensive genomic analysis identifies pathogenic variants in maturity-onset diabetes of the young (MODY) patients in South India

Sample information and clinical characteristics. Table S1b. Summary of clinical characteristics of MODY patient samples. Table S2a. Sequencing statistics of combined exome and WGS. Table S2b. Sequencing statistics of targeted exome samples. Table S3. Targeted gene panel. Table S4. Candidate variants identified in MODY samples. Table S5. Differentially expressed genes - NKX6–1 (XLS 292 kb

Additional file 2: Figure S1. of Comprehensive genomic analysis identifies pathogenic variants in maturity-onset diabetes of the young (MODY) patients in South India

Box plot showing (a) fasting plasma glucose, (b) fasting insulin, (c) C-peptide fasting, (d) C-peptide stimulated and (e) creatinine in MODY and control samples. The median value is shown as a line with the whiskers extending from the highest value within 1.5 * IQR of the third quartile to the lowest value within 1.5 * IQR of the first quartile where IQR is the inter-quartile range. Figure S2. Heatmap depicting the genotype based identity of the discovery and validation MODY cohort and control samples. Genomic regions for which we obtained data for the validation cohort samples and corresponding regions from the discovery set samples using GATK joint-variant caller. The sample identity was computed based on the high-confidence set of single nucleotide variants (SNVs) that passed GATK Hard-Filtering criteria. Figure S3. Expression level of mouse Nkx6–1 (top) or human NKX6–1 (bottom) following induction in cells stably expressing the indicated variant or wildtype. Figure S4. Western blot showing the expression of NKX6–1 48 h post dox induction. Hsp90 was used as a loading control. (ZIP 5136 kb