Posts

BIOINFORMATICS: VARIANT CALLING AND ANNOTATION 🎗

Image
“The genome doesn't come color-coded. You have to figure out which bits matter.” - Professor Eric S. Lander 🧬 NGS can generate millions of DNA reads, but raw sequences do not immediately reveal which genetic differences are important. Variant calling identifies differences from a reference genome, while variant annotation determines their potential biological & clinical significance. They support research into inherited disease, cancer genomics, population variation, & precision medicine. 🔹 Variant calling is the computational identification of genomic variants from sequencing data. A typical workflow includes quality control, read preprocessing, alignment to a reference genome, variant detection, & quality assessment. It can identify single-nucleotide variants (SNVs), SNPs, insertions/deletions (indels), &, with appropriate methods, structural variants. Tools such as GATK, FreeBayes, and bcftools evaluate sequencing evidence & generate variant data commonly...
Post a Comment
Read more

WEEKEND READS 📚

Image
Recommended book of the weekend: 🍃 ☕ ➡️ "EON" By Greg Bear   🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁
Post a Comment
Read more

FUNCTIONAL GENOMICS AND GENE-EXPRESSION ANALYSIS 🎗️

Image
“The study of gene expression is central to understanding biological processes.” - Professor Victor H. Velculescu 🧬 Functional genomics investigates the biological functions, regulation, and interactions of genes and their products. Unlike traditional genomics, by integrating high-throughput technologies with computational biology, it enables genome-wide investigation of biological systems. Gene-expression analysis is central to this field because changes in transcription can reveal cellular states, developmental processes, environmental responses, and disease mechanisms. 🔹 Gene-expression analysis measures RNA activity, particularly messenger RNA (mRNA), within cells or tissues. Major approaches include RT-qPCR, microarrays, and RNA-seq. RT-qPCR provides sensitive measurement of selected transcripts; microarrays enable parallel analysis of thousands of known transcripts; while RNA-seq offers broader characterization of transcripts, alternative splicing, and previously unannotated RN...
Post a Comment
Read more

WEEKEND READS 📚

Image
Recommended book of the weekend: 🍃 ☕ ➡️ "PREY" By Michael Crichton 🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁
Post a Comment
Read more

CASE STUDY: CONGENITAL ANOMALIES, RARE DISEASES AND INHERITED DISORDERS 🎗

Image
“Genomic medicine has the potential to transform the diagnosis and treatment of rare diseases.” - Dr. Eric D. Green 🧬 Congenital anomalies, rare diseases and inherited disorders are central to human genetics because they reveal how genomic, chromosomal and environmental factors influence development and lifelong health. Congenital anomalies may arise from genetic variants, chromosomal abnormalities, infections, nutritional factors or gene-environment interactions. Although individual rare diseases are uncommon, collectively they affect millions worldwide. 🔹 Down syndrome is most commonly caused by trisomy 21 and hints the importance of cytogenetics, prenatal screening, diagnostic testing and genetic counselling. Non-invasive prenatal testing (NIPT) has substantially improved screening accuracy, although positive screening results require diagnostic confirmation. Importantly, genomic information should support (not define) expectations about an individual's abilities, health or qu...
Post a Comment
Read more

WEEKEND READS 📚

Image
Recommended book of the weekend: 🍃 ☕ ➡️ "THE YEAR OF THE FLOOD" By Margaret Atwood   🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁
Post a Comment
Read more

CHORIONIC VILLUS SAMPLING AND AMNIOCENTESIS 🎗

Image
"Prenatal diagnosis has transformed the practice of medical genetics.” - Dr. Aubrey Milunsky 🧬 Chorionic villus sampling (CVS) and amniocentesis remain two epitomic invasive procedures in prenatal genetic diagnosis. Unlike screening approaches such as ultrasound and cell-free DNA testing, they provide diagnostic fetal-derived material for chromosomal and molecular analysis.      🔹 Chorionic villus sampling (CVS) is generally performed at 10–13 weeks of gestation. Chorionic villi are obtained from the placenta through a transabdominal or transcervical approach under ultrasound guidance. The sample can support karyotyping, chromosomal microarray, and targeted molecular testing, enabling relatively early diagnosis of conditions such as trisomy 21, 18 and 13, as well as selected single-gene disorders.       🔹 Amniocentesis is typically performed from 15 weeks onward. A small volume of amniotic fluid is collected transabdominally under ultrasound ...
Post a Comment
Read more