High-Throughput Genetic Data Analysis

In genome-wide association (GWAS) or large scale candidate gene studies, several hundreds of thousands of single nucleotide polymorphisms (SNPs) are analyzed at the same time, creating substantial biostatistical and computational challenges. From epidemiological point of view, the relationship between “genotypes” and “phenotypes” can be modelled by probability distributions. Thus probability and statistics are key tools in population genetics. Additionally the analysis of genetic determinants is based on random samples from a population, which often has biased data. Various statistical methods are used to control for bias and get valid results.

Services Offered

Jaivik Data offers advanced and updated methodologies in the field of biostatistics and bioinformatics for data analysis by leveraging latest statistical packages, software and data analysis tools. We offer management and quality control of high throughput data, statistical modelling for association analysis, haplotype analysis, gene-gene interaction analysis, multi-order SNP interaction analysis, cumulative effect of SNPs, correction for multiple testing, permutation analysis and gene-environment interaction analysis.

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Variant Analysis

Variant analysis helps to rapidly identify and prioritize variants by drilling down to a small, targeted subset of compelling variants based both upon published biological evidence and own knowledge of disease biology. With variant analysis, one can interrogate variants from multiple biological perspectives, explore different biological hypothesis, and identify the most promising variants for follow-up analysis.

Services Offered

We offer variant annotation (filter based, region based, gene based), identification of novel mutations not previously reported in the literature and prioritization based on function (frameshift or non-synonymous codon changes). We help identify promising variants for follow-up based on detailed annotations, literature survey regarding implications of known variants and genes on disease biology, and quick exclusion of common and non-deleterious variants.

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Copy Number Variation Analysis

Recent discoveries have revealed that large segments of DNA, ranging in size from thousands to millions of DNA bases, can vary in copy-number. Such copy number variations (CNVs) can encompass genes leading to dosage imbalances. These changes influence most traits including susceptibility to disease. Since CNVs often encompass genes, they may have important roles both in human disease and drug response. In addition, understanding the mechanisms of CNV formation may also help us better understand human genome evolution.

Services Offered

Jaivik Data offers thorough quality control of CNV data, intensity report for CNV SNPs and probes, identification of important CNVs related to disease, and annotation of CNV.

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