Biodivers Data J

Nov 2016

India Biodiversity Portal: An integrated, interactive and participatory biodiversity informatics platform.

This paper describes a growing biodiversity platform, launched in 2008, which organizes knowledge on the biodiversity of India. The main objective and originality of the India Biodiversity Portal (IBP) is to aggregate curated biodiversity data of different kinds (e.g. distribution maps, temporal distribution or life history) in an integrated platform where amateurs and experts can easily interact.

Medical Oncology

Oct 2016

Targeted molecular profiling of rare genetic alterations in colorectal cancer using next-generation sequencing

Mutation frequencies of common genetic alterations in colorectal cancer have been in the spotlight for many years. This study highlights few rare somatic mutations, which possess the attributes of a potential CRC biomarker yet are often neglected.

Opthalmic Genetics

Sep 2016

Genetic studies in a patient with X-linked retinoschisis coexisting with developmental delay and sensorineural hearing loss

In this study, we present a juvenile retinoschisis patient with developmental delay, sensorineural hearing loss, and reduced axial tone. X-linked juvenile retinoschisis (XLRS) is a retinal dystrophy, most often not associated with systemic anomalies and also not showing any locus heterogeneity.

Molecular Vision

Aug 2016

Next-generation sequencing-based method shows increased mutation detection sensitivity in an Indian retinoblastoma cohort

Retinoblastoma (Rb) is the most common primary intraocular cancer of childhood and one of the major causes of blindness in children. India has the highest number of patients with Rb in the world.

VirusDisease

Jul 2016

Analysis of Ebola virus polymerase domains to find strain-specific differences and to gain insight on their pathogenicity

Ebola virus, a member of the family Filoviridae has caused immense morbidity and mortality in recent times, especially in West Africa. The infection characterized by chills, fever, diarrhea, and myalgia can progress to hemorrhage and death.

Journal of Human Genetics

Jul 2016

Homozygosity mapping guided next generation sequencing to identify the causative genetic variation in inherited retinal degenerative diseases

Inherited retinal degeneration (IRD) are a group of genetically heterogeneous disease of which retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are the most common and severe type. In our study we had taken three unrelated South Indian consanguineous IRD families.

Journal of Human Genetics

Jun 2016

Detection of high frequency of mutations in a breast and/or ovarian cancer cohort: implications of embracing a multi-gene panel in molecular diagnosis in India

Breast and/or ovarian cancer (BOC) are among the most frequently diagnosed forms of hereditary cancers and leading cause of death in India. This emphasizes on the need for a cost-effective method for early detection of these cancers.

Scientific reports

Jun 2016

Microsomal membrane proteome of low grade diffuse astrocytomas: Differentially expressed proteins and candidate surveillance biomarkers

Diffuse astrocytoma (DA; WHO grade II) is a low-grade, primary brain neoplasm with high potential of recurrence as higher grade malignant form. We have analyzed differentially expressed membrane proteins from these tumors, using high-resolution mass spectrometry.