Scientist, Bioinformatics

Scientist, Bioinformatics

Bridging the gap between Genomics and Data Science

Posts by Tags

10XGenomics

10plex

16s rRNA amplicon

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.

ATAC-seq (Assay for Transposase Accessible Chromatin with high-throughput Sequencing)

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.

Amazon Web Services

BWA

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.

Bioinformatics

Kaplan-Meier Curve using R

2 minute read

Published:

Kaplan-Meier curve shows what the probability of an event (for example, survival) at a certain time interval. The log-rank test compares the survival curves of two or more groups. With a small subset of patients, the Kaplan-Meier estimates can be misleading and should be interpreted with caution.

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.

Cell Ranger

Chromium Single Cell Gene Expression

Cluster Computing

DADA2

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.

Emory University

Quantitative proteomics: aptamer-based quantitation of proteins

5 minute read

Published:

The aptamer-based SomaScan® assay is one of the popular methods of measuring abundances of protein targets. There is very little information on correlation between mass spectrometry (MS)-based proteomics, SOMAscan and Olink assays; Olink is another popular high throughput antibody-based platform. Some studies also reported a measurement variation between those platforms. In general aptamers/SOMAmers are selected against target proteins in their native conformation and in some cases against a functional protein with “known” post translational modifications (PTMs). It’s well known that novel PTMs (pathogen or disease-induced) can impact the protein structure, electrophilicity and interactions with proteins. The other main disadvantage is quantification which is based on DNA microarray chips (background noise). The main advantages are lower cost and data analysis.

Kaplan-Meier Curve using R

2 minute read

Published:

Kaplan-Meier curve shows what the probability of an event (for example, survival) at a certain time interval. The log-rank test compares the survival curves of two or more groups. With a small subset of patients, the Kaplan-Meier estimates can be misleading and should be interpreted with caution.

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.

FastQC

Feature Barcoding

GATK

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.

Genomics

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.

Genotypes

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.

HOMER

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.

HTSeq

HUMAnN2

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.

Indel

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.

Kaplan-Meier-curve

Kaplan-Meier Curve using R

2 minute read

Published:

Kaplan-Meier curve shows what the probability of an event (for example, survival) at a certain time interval. The log-rank test compares the survival curves of two or more groups. With a small subset of patients, the Kaplan-Meier estimates can be misleading and should be interpreted with caution.

LFQ

MACS2

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.

MS-based Proteomics

Quantitative proteomics: aptamer-based quantitation of proteins

5 minute read

Published:

The aptamer-based SomaScan® assay is one of the popular methods of measuring abundances of protein targets. There is very little information on correlation between mass spectrometry (MS)-based proteomics, SOMAscan and Olink assays; Olink is another popular high throughput antibody-based platform. Some studies also reported a measurement variation between those platforms. In general aptamers/SOMAmers are selected against target proteins in their native conformation and in some cases against a functional protein with “known” post translational modifications (PTMs). It’s well known that novel PTMs (pathogen or disease-induced) can impact the protein structure, electrophilicity and interactions with proteins. The other main disadvantage is quantification which is based on DNA microarray chips (background noise). The main advantages are lower cost and data analysis.

MS3 spectra

MatrixEqtl

eQTL analysis of RNA-Seq data

1 minute read

Published:

Genetic locus that affects gene expression is often referred to as expression quantitative trait locus (eQTL). eQTL mapping studies assesses the association of SNPs with genome-wide expression levels.
Based on the hg38 reference genome, paired-end reads are mapped by STAR aligner. The mapped reads are used for expression quantification without assembling transcripts by counting the number of reads that map to an exon by HTSeq that uses Refseq gene annotations. Then, to correct for systematic variability such as library fragment size, sequence composition bias, and read depth the raw counts are normalized as trimmed mean of M-values (TMM) through edgeR.

MaxQuant

MetaPhlAn2

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.

NGS

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.

OTU

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.

Olink Proteomics

Quantitative proteomics: aptamer-based quantitation of proteins

5 minute read

Published:

The aptamer-based SomaScan® assay is one of the popular methods of measuring abundances of protein targets. There is very little information on correlation between mass spectrometry (MS)-based proteomics, SOMAscan and Olink assays; Olink is another popular high throughput antibody-based platform. Some studies also reported a measurement variation between those platforms. In general aptamers/SOMAmers are selected against target proteins in their native conformation and in some cases against a functional protein with “known” post translational modifications (PTMs). It’s well known that novel PTMs (pathogen or disease-induced) can impact the protein structure, electrophilicity and interactions with proteins. The other main disadvantage is quantification which is based on DNA microarray chips (background noise). The main advantages are lower cost and data analysis.

Perseus

Proteomics

Quantitative Proteomics

Quantitative proteomics: aptamer-based quantitation of proteins

5 minute read

Published:

The aptamer-based SomaScan® assay is one of the popular methods of measuring abundances of protein targets. There is very little information on correlation between mass spectrometry (MS)-based proteomics, SOMAscan and Olink assays; Olink is another popular high throughput antibody-based platform. Some studies also reported a measurement variation between those platforms. In general aptamers/SOMAmers are selected against target proteins in their native conformation and in some cases against a functional protein with “known” post translational modifications (PTMs). It’s well known that novel PTMs (pathogen or disease-induced) can impact the protein structure, electrophilicity and interactions with proteins. The other main disadvantage is quantification which is based on DNA microarray chips (background noise). The main advantages are lower cost and data analysis.

RNA-Seq

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.

eQTL analysis of RNA-Seq data

1 minute read

Published:

Genetic locus that affects gene expression is often referred to as expression quantitative trait locus (eQTL). eQTL mapping studies assesses the association of SNPs with genome-wide expression levels.
Based on the hg38 reference genome, paired-end reads are mapped by STAR aligner. The mapped reads are used for expression quantification without assembling transcripts by counting the number of reads that map to an exon by HTSeq that uses Refseq gene annotations. Then, to correct for systematic variability such as library fragment size, sequence composition bias, and read depth the raw counts are normalized as trimmed mean of M-values (TMM) through edgeR.

RNASeq

SGE Cluster

SNP

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.

SOMALogic

Quantitative proteomics: aptamer-based quantitation of proteins

5 minute read

Published:

The aptamer-based SomaScan® assay is one of the popular methods of measuring abundances of protein targets. There is very little information on correlation between mass spectrometry (MS)-based proteomics, SOMAscan and Olink assays; Olink is another popular high throughput antibody-based platform. Some studies also reported a measurement variation between those platforms. In general aptamers/SOMAmers are selected against target proteins in their native conformation and in some cases against a functional protein with “known” post translational modifications (PTMs). It’s well known that novel PTMs (pathogen or disease-induced) can impact the protein structure, electrophilicity and interactions with proteins. The other main disadvantage is quantification which is based on DNA microarray chips (background noise). The main advantages are lower cost and data analysis.

SPATIAL GENE EXPRESSION

STAR

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.

Seurat

Single Cell

Single cell RNA-sequencing (scRNA-seq)

Space Ranger

Survival analysis

Kaplan-Meier Curve using R

2 minute read

Published:

Kaplan-Meier curve shows what the probability of an event (for example, survival) at a certain time interval. The log-rank test compares the survival curves of two or more groups. With a small subset of patients, the Kaplan-Meier estimates can be misleading and should be interpreted with caution.

TMT

TMT 10plex

VCF

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.

VEP

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.

Variant calling

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.

Visium Spatial Gene Expression Solution

Vital

Kaplan-Meier Curve using R

2 minute read

Published:

Kaplan-Meier curve shows what the probability of an event (for example, survival) at a certain time interval. The log-rank test compares the survival curves of two or more groups. With a small subset of patients, the Kaplan-Meier estimates can be misleading and should be interpreted with caution.

WGS

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.

aptamer-based proteomics

Quantitative proteomics: aptamer-based quantitation of proteins

5 minute read

Published:

The aptamer-based SomaScan® assay is one of the popular methods of measuring abundances of protein targets. There is very little information on correlation between mass spectrometry (MS)-based proteomics, SOMAscan and Olink assays; Olink is another popular high throughput antibody-based platform. Some studies also reported a measurement variation between those platforms. In general aptamers/SOMAmers are selected against target proteins in their native conformation and in some cases against a functional protein with “known” post translational modifications (PTMs). It’s well known that novel PTMs (pathogen or disease-induced) can impact the protein structure, electrophilicity and interactions with proteins. The other main disadvantage is quantification which is based on DNA microarray chips (background noise). The main advantages are lower cost and data analysis.

brightfield microscope image

cnv

Copy number variation discovery workflows using NGS data.

less than 1 minute read

Published:

Copy number variations (CNVs) represent gain or loss of genomic regions. CNVs transmit from parents to offspring or arise de novo and play important role in neuro-psychiatric disorders and cancers.

computing

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.

Copy number variation discovery workflows using NGS data.

less than 1 minute read

Published:

Copy number variations (CNVs) represent gain or loss of genomic regions. CNVs transmit from parents to offspring or arise de novo and play important role in neuro-psychiatric disorders and cancers.

curation

discordant sex informaion

Quality control for GWAS studies

1 minute read

Published:

An important step in the analysis of genome-wide association studies (GWAS) is to identify problematic subjects and markers. Quality control (QC) in GWAS removes markers and individuals, and greatly increases the accuracy of findings.

eQTL

eQTL analysis of RNA-Seq data

1 minute read

Published:

Genetic locus that affects gene expression is often referred to as expression quantitative trait locus (eQTL). eQTL mapping studies assesses the association of SNPs with genome-wide expression levels.
Based on the hg38 reference genome, paired-end reads are mapped by STAR aligner. The mapped reads are used for expression quantification without assembling transcripts by counting the number of reads that map to an exon by HTSeq that uses Refseq gene annotations. Then, to correct for systematic variability such as library fragment size, sequence composition bias, and read depth the raw counts are normalized as trimmed mean of M-values (TMM) through edgeR.

edgeR

eQTL analysis of RNA-Seq data

1 minute read

Published:

Genetic locus that affects gene expression is often referred to as expression quantitative trait locus (eQTL). eQTL mapping studies assesses the association of SNPs with genome-wide expression levels.
Based on the hg38 reference genome, paired-end reads are mapped by STAR aligner. The mapped reads are used for expression quantification without assembling transcripts by counting the number of reads that map to an exon by HTSeq that uses Refseq gene annotations. Then, to correct for systematic variability such as library fragment size, sequence composition bias, and read depth the raw counts are normalized as trimmed mean of M-values (TMM) through edgeR.

functional profiling

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.

genomics

Copy number variation discovery workflows using NGS data.

less than 1 minute read

Published:

Copy number variations (CNVs) represent gain or loss of genomic regions. CNVs transmit from parents to offspring or arise de novo and play important role in neuro-psychiatric disorders and cancers.

heterozygosity rate

Quality control for GWAS studies

1 minute read

Published:

An important step in the analysis of genome-wide association studies (GWAS) is to identify problematic subjects and markers. Quality control (QC) in GWAS removes markers and individuals, and greatly increases the accuracy of findings.

htseq

eQTL analysis of RNA-Seq data

1 minute read

Published:

Genetic locus that affects gene expression is often referred to as expression quantitative trait locus (eQTL). eQTL mapping studies assesses the association of SNPs with genome-wide expression levels.
Based on the hg38 reference genome, paired-end reads are mapped by STAR aligner. The mapped reads are used for expression quantification without assembling transcripts by counting the number of reads that map to an exon by HTSeq that uses Refseq gene annotations. Then, to correct for systematic variability such as library fragment size, sequence composition bias, and read depth the raw counts are normalized as trimmed mean of M-values (TMM) through edgeR.

human complement

iBAC

isobaric labeling

label free quantitation

metagenomics

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.

microbiome

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.

missingness

Quality control for GWAS studies

1 minute read

Published:

An important step in the analysis of genome-wide association studies (GWAS) is to identify problematic subjects and markers. Quality control (QC) in GWAS removes markers and individuals, and greatly increases the accuracy of findings.

networks

plink

Quality control for GWAS studies

1 minute read

Published:

An important step in the analysis of genome-wide association studies (GWAS) is to identify problematic subjects and markers. Quality control (QC) in GWAS removes markers and individuals, and greatly increases the accuracy of findings.

qiime2

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.

runs of homozygosity

Quality control for GWAS studies

1 minute read

Published:

An important step in the analysis of genome-wide association studies (GWAS) is to identify problematic subjects and markers. Quality control (QC) in GWAS removes markers and individuals, and greatly increases the accuracy of findings.

shotgun metagenomics sequencing

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.

tandem mass tag

taxonomic profiling

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.