COMMUNICATION | doi:10.20944/preprints201808.0534.v1
Subject: Life Sciences, Genetics Keywords: long non coding RNA, whole exome sequencing, protein interaction, congenital pouch colon, microscale thermophoresis
Online: 30 August 2018 (15:30:35 CEST)
Congenital Pouch Colon (CPC) is a rare anorectal anomaly common to North Western India specifically Rajasthan. Despite efforts to understand the clinical genetic makeup of CPC, no attempt on identifying non-coding RNAs was done. We have earlier reported CPC's rare variants from whole exome sequencing across 18 affected samples in a total of 64 subjects. A Smith-Waterman algorithm was used to infer a couple of lncRNAs from WES samples of CPC with predictions from the Noncode database. Further screening and quantification using PCR, we ascertained interactions using Micro Scale Thermophoresis (MST). We report the role of lnc-EPB41-1-1 shown to be promiscuously interacting with KIF13A substantiating their role in regulation.
REVIEW | doi:10.20944/preprints201811.0571.v2
Subject: Life Sciences, Genetics Keywords: prostate cancer; prostate-specific antigen; incidence; genomics; next generation sequencing
Online: 3 April 2019 (10:15:50 CEST)
In the recent past, there has been a rise in Prostate Cancer (PCa) in Asia, particularly India. Although systematic reviews on PCa have dealt on the genetics, genomics and the environmental influence in causal of PCa, no predictive analytics in comparing the PCa from Caucasian, American to Asian population was attempted. In this review article, we have attempted to elaborate this aspect of PCa and deliberated on challenges related to next generation sequencing methods of PCa’s manifestation when compared to the west.
ARTICLE | doi:10.20944/preprints202209.0362.v1
Subject: Life Sciences, Genetics Keywords: RNA-Seq; Vitamin K; Comorbidities; Differential Expressed Genes; Variant analysis
Online: 23 September 2022 (09:13:29 CEST)
Systems genetics is key for integrating a large number of variants associated with diseases. Vitamin K (VK) is one of the scarcely studied conditions in lieu of ascertaining either the differentially expressed genes (DEGs) or variants in an individual subpopulation of diseased phenotypes associated with VK, viz. myocardial infarction, renal failure, prostate cancer, thrombosis, thrombocytopenia, coagulation related diseases to name a few. In this work, we have screened characteristic DEGs common to three VK-related diseases, viz. myocardial infarction, renal failure and prostate cancer and asked whether or not any DEGs in addition to pathogenic variants are common to these conditions. We attempt to bridge the gap in finding characteristic biomarkers and discuss the role of long noncoding RNAs (lncRNAs) in the biogenesis of VK deficiencies.