Abubakar Abubakar

Recommended book of the weekend: 🍃 ☕ ➡️ "MY SISTER'S KEEPER" By Jodi Picoult   🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁

“We’ve known for a long time that there are people out there at high risk for disease based just on their overall genetic variation.” - Dr. Sekar Kathiresan 🧬 Precision medicine aims to shape disease prevention, diagnosis, and treatment to individual characteristics, including genetics, environment, lifestyle, and other biological factors. Advances in genomics have made it possible to identify genetic variants associated with disease susceptibility and treatment response, supporting more individualized approaches to conditions such as cardiovascular disease, cancer, diabetes, infertility, and other complex disorders. 🔹 Polygenic risk is an important component of precision medicine. Many common diseases arise from the combined effects of numerous genetic variants, each contributing a small amount to overall risk. A polygenic risk score (PRS) aggregates these effects to estimate an individual's inherited susceptibility to a particular disease or trait. 🔹 PRSs may support earlie...

Recommended book of the weekend: 🍃 ☕ ➡️ "MADDADDAM" By Margaret Atwood    🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁

“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...

Recommended book of the weekend: 🍃 ☕ ➡️ "EON" By Greg Bear   🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁🍁

“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...