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Genomics Services


  • Comprehensive NGS solutions, from sample preparation to bioinformatics analysis

  • Rigorous quality control in every step of the NGS workflow

  • Fast turnaround time

  • Experienced technical and scientific support at your service

  • Personalized NGS services based on project-specific needs available

  • etc


  • De novo genome assembly

  • Reference mapping

  • Variant analysis

  • Differential gene expression analysis

  • Copy number and structural variation analysis

  • Custom pipeline development, visualization and reporting

  • 16S rRNA sequencing and species identification

  • Methylation-Seq, whole epigenome, reduced dataset epigenomics

  • etc

PreQC Hand Book

This document provides guidelines on how to prepare, quantify and submit samples to Medikonia. Whether you are submitting DNA or RNA samples, it is essential that appropriate instructions be followed to enable the successful completion of your projects.

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Which one is your project?

Advances in whole-genome amplification and Medikonia’s expertise have made single cell sequencing easily accessible to researchers. Medikonia is one of the few NGS providers with extensive experience in single cell sequencing technology, including single-cell DNA sequencing. We offer the highest quality services in amplification, library construction, sequencing, and bioinformatics analysis to our customers, and our results have been published in leading scientific journals.

Human whole genome sequencing enables researchers to catalog the genetic constitution of individuals and capture all the variants present in a single assay. It is applied to the study of cancer and a variety of diseases, as well as human population evolution studies and pharmacogenomics.

Exome sequencing provides a cost- effective alternative to whole genome sequencing as it targets only the protein coding region of the human genome responsible for a majority of known disease related variants. Whether you are conducting studies in rare Mendelian disorders, complex diseases, cancer research, or human population studies, Medikonia’s comprehensive human whole exome sequencing service provides a high-quality, affordable and convenient solution.
Medikonia’s bioinformatics analysis includes data QC, mapping with reference genome, SNP/InDel, somatic SNP/InDel calling, statistics and annotation. Medikonia utilizes internationally recog- nized software in bioinformatics analysis/

mRNA sequencing (mRNA-Seq), a method of transcriptome profiling based on deep-sequencing technologies, provides a more precise measurement of transcript levels and their isoforms with a complete snapshot of the coding transcriptome than other methods such as microarray analysis.
Transcriptome sequencing with longer read length enables the identification of novel transcripts, alternative splicing and gene fusions, and scientists can identify biomarkers or key regulated genes, key functional genes related to different phenotypes, as well as key factors in temporal changes.
RNA-Seq quantification with shorter read length can simultaneously measure the expression levels of many transcripts. It is widely used in disease research, drug response research, pharmacokinetics, and personalized healthcare research.

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With de novo genome sequencing, the first genome map for a species is generated,

providing a valuable reference sequence for phylogenetic studies, analysis of species diversity,

mapping of specific traits and genetic markers, and other genomics research.

With the development of next-generation sequencing technology,

de novo genome sequencing has become more rapid and affordable,

and Medikonia is based on the forefront of this technology

-with SOAP Denovo software package for genome assembly.

Medikonia team have contributed to several important

-publications on novel genome sequences, and we can

-provide you with the high level of expertise required for-

your de novo genome sequencing project.

Amplicon sequencing is frequently used to identify and differentiate microbial species. Short (< 470 bp) hypervariable regions of conserved genes or intergenic regions are amplified by PCR, analyzed using NGS technology, and the resulting sequences are compared against microbial databases.

For bacteria and archaea, the 16S rRNA gene is the most common target for amplicon sequencing. For fungi, three targets are generally used: the 18S rRNA gene, and two internal transcribed spacers (ITS) located between rRNA genes. These regions are usually sufficiently divergent to separate even highly related species, and can sometimes differentiate subspecies.

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DNA methylation at the C5 position of cytosine plays a crucial role in gene expression and chromatin remodelling, and perturbations in methylation patterns are implicated in the development of cancer, neurodegenerative diseases, and neurological disorders. Therefore, the mapping of methylated bases (the methylome) is critical to understanding gene expression and other processes subject to epigenetic regulation.

Long non-coding RNAs (LncRNAs) are transcribed RNAs longer than 200 nt that do not encode for proteins. LncRNAs are involved in a wide range of important cellular processes such as X-chromosome inactivation, imprinting, and maintenance of pluripotency, lineage commitment and apoptosis. LncRNAs are also known to be involved with human diseases such as cancer, cardiovascular disease and neurological disorders, and are of significant interest to researchers.

ChIP-Seq provides genome-wide profiling of DNA targets for histone modification, transcription factors, and other DNA-associated proteins; it combines the selectivity of chromatin immuno-precipitation (ChIP) for recovering specific protein-DNA complexes with the power of NGS for high-throughput sequencing of the recovered DNA. Additionally, because the protein-DNA complexes are recovered from living cells, binding sites can be compared in different cell types or tissues, or under different conditions.

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In metagenomics, genomes from environmental samples are analyzed without the prior
isolation and cultivation of individual species, and, therefore, it is a powerful technique
for studying microbial communities in their natural habitat, with a broad range of

With advancements in next-generation sequencing technology, whole genome
resequencing (WGS) has become the most rapid and effective method to unravel, at
the genomic level, the underlying mechanisms of species origin, development, growth,
and evolution. Using WGS, the complete genome data from one or more variants can
be aligned to known genomic sequence(s) for the species. Applications of WGS include
detection of genetic differences between variants, transposon fingerprinting for assessing
germplasm diversity and lineages, and mapping loci associated with specific traits, such
as disease resistance.

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Single-cell sequencing is now readily available to researchers through Medikonia’s expertise in this field. Medikonia is one of the few NGS providers with extensive experience in single cell sequencing technology, including single-cell RNA-Seq. We offer the highest quality services in amplification, library construction, sequencing, and bioinformatics analysis to our customers, and our results have been published in leading scientific journals.

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