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Whole genome variant analysis in three ethnically diverse Indians
Seema Malhotra,Sayar Singh,Soma Sarkar 한국유전학회 2018 Genes & Genomics Vol.40 No.5
India represents an amazing confluence of geographically, linguistically and socially disparate ethnic populations (Indian Genome Variation Consortium, J Genet 87:3–20, 2008). Understanding the genetic diversity of Indian population remains a daunting task. In this paper we present detailed analysis of genomic variations (high-depth coverage (~ 30×) using Illumina Hiseq 2000 platform) from three healthy Indian male individuals each belonging to three geographically delineated regions and linguistic phylum viz. high altitude region of Ladakh (Tibeto-Burman linguistic phylum), sub mountainous region of Kumaun (Indo-European linguistic phylum) and sea level region of Telangana (Dravidian linguistic phylum) for probing the extent of genetic diversity in our population. The sequencing analysis provided high quality data (~ 95% of the total reads aligned to the human reference genome for each sample) and very good alignment quality (> 80% of the filtered mapped reads had a quality score of 60). A total of 4.3, 3.7 and 4.3 million single nucleotide variations were identified in the genome of high altitude, sub mountainous and sea level respectively by comparing with human reference genome. Approximately 17.3, 18.2, 17.4% of the variants were unique in the three genomes. The study identified many novel variations in the three diverse genomes (132,970 in Ladakh, 112,317 in Kumaun and 128,881 in Telangana individual) and is an important resource for creating a baseline and a comprehensive catalogue of human genomic variation across the Indian as well as the Asian continent.
Polyaniline/carbon nanotubes platform for sexually transmitted disease detection
Singh, Renu,Dhand, Chetna,Sumana, Gajjala,Verma, Rachna,Sood, Seema,Gupta, Rajinder Kumar,Malhotra, Bansi Dhar John Wiley Sons, Ltd. 2010 Journal of molecular recognition Vol.23 No.5
<P><B>Abstract</B></P>10.1002/jmr.1014.abs<P>Polyaniline/carbon nanotubes composite (PANI‐CNT) electrochemically deposited onto indium‐tin‐oxide (ITO) coated glass plate has been utilized for <I>Neisseria gonorrhoeae</I> detection by immobilizing 5′‐amino‐labeled <I>Neisseria gonorrhoeae</I> probe (aDNA) using glutaraldehyde as a cross‐linker. PANI‐CNT/ITO and aDNA‐Glu‐PANI‐CNT/ITO electrodes have been characterized using scanning electron microscopy (SEM), Fourier Transform Infrared (FT‐IR) spectroscopy, cyclic voltammetry (CV), and differential pulse voltammetry (DPV). This bioelectrode can be used to detect <I>N. gonorrhoeae</I> using methylene blue (MB) as redox indicator with response time of 60 s and stability of about 75 days when stored under refrigerated conditions. DPV studies reveal that this bioelectrode can detect complementary DNA concentration from 1 × 10<SUP>−6</SUP> M to 1 × 10<SUP>−17</SUP> M with detection limit of 1.2 × 10<SUP>−17</SUP> M. Further, this bioelectrode (aDNA‐Glu‐PANI‐CNT/ITO) exhibits specificity toward <I>N. gonorrhoeae</I> species and shows negative response with non‐<I>Neisseria gonorrhoeae</I> <I>Neisseria</I> species (NgNS) and other gram negative bacteria (GNB). Copyright © 2010 John Wiley & Sons, Ltd.</P>