2023

Quantitative Proteomics: Aptamer-Based Protein Quantification

5 minute read

Published:

Quantitative proteomics is a cutting-edge approach for measuring protein levels in complex biological samples. One innovative method in this field is aptamer-based protein quantification. Aptamers, which are short, single-stranded DNA or RNA molecules, are engineered to specifically bind to target proteins with high precision.

2022

Kaplan-Meier Curve using R

3 minute read

Published:

The Kaplan-Meier curve is a powerful tool in survival analysis, commonly used to estimate the probability of an event—such as survival—at different time intervals. It provides a visual representation of the time it takes for an event to occur across a patient population. This method is especially useful in medical studies where understanding survival rates is key.

2021

Annotation of genetic variants

4 minute read

Published:

Tools such as ANNOVAR, Variant Effect Predictor (VEP) or SnpEff annotate genetic variants (SNPs, INDELS, CNVs etc) present in VCF file. These tools integrate the annotations within the INFO column of the original VCF file.

2020

2019

ATAC-seq peak calling with MACS2

2 minute read

Published:

ATAC-seq (Assay for Transposase Accessible Chromatin with high-throughput Sequencing) is a next-generation sequencing approach for the analysis of open chromatin regions to assess the genome-wise chromatin accessibility.

Taxonomic and diversity profiling of the microbiome - 16S rRNA gene amplicon sequence data

1 minute read

Published:

The 16S ribosomal RNA (rRNA) gene of Bacteria codes for the RNA component of the 30S subunit. Different bacterial species have one to multiple copies of the 16S rRNA gene, and each with 9 hypervariable regions, V1-V9. High-throughput sequencing of 16S rRNA gene (a “marker gene”) amplicons has become a widely used method to study bacterial phylogeny and species classification.

2018

Taxonomic and functional profiling of the microbiome - whole genome shotgun metagenomics

1 minute read

Published:

This workflow consists of taxonomic and functional profiling of shotgun metagenomics sequencing (MGS) reads using MetaPhlAn2 and HUMAnN2, respectively. To perform taxonomic (phyla, genera or species level) profiling of the MGS data, the MetaPhlAn2 pipeline was run on a high performance multicore cluster computing environment.

Genomic variants from RNA-Seq data

1 minute read

Published:

RNA-Seq allows the detection and quantification of known and rare RNA transcripts within a sample. In addition to differential expression and detection of novel transcripts, RNA-seq also supports the detection of genomic variation in expressed regions.

2017

RNA-Seq eQTL Analysis Pipeline: Uncovering Genetic Influences on Gene Expression

1 minute read

Published:

Understanding how genetic variations impact gene expression is crucial for uncovering the underlying mechanisms of complex traits and diseases. One powerful tool for this investigation is the expression quantitative trait locus (eQTL) analysis, which examines the relationship between genetic variants and genome-wide expression levels.

Quality control for GWAS studies

1 minute read

Published:

A crucial step in analyzing genome-wide association studies (GWAS) is identifying problematic subjects and markers. Quality control (QC) in GWAS involves removing unreliable markers and individuals, significantly enhancing the accuracy of results.

Workflows for Discovering Copy Number Variations Using NGS Data.

less than 1 minute read

Published:

Copy number variations (CNVs) are genomic alterations that involve the gain or loss of specific regions of DNA. These variations can be inherited from parents or can arise de novo, and they play a significant role in neuropsychiatric disorders and cancers.