Hope After The Report
A reflection by a DM Medical Genetics trainee on shifting from risk-based counseling to compassion, hope, and inclusion in prenatal diagnosis.... Read more.
qPCR For Deletion Analysis: A Practical Guide
Learn how to use SYBR Green qPCR to detect heterozygous gene deletions. Step-by-step guide with data analysis, interpretation, and troubleshooting tips for polymorphic... Read more.
SYBR Green-Based qPCR Protocol with Detailed Explanation of Melt Curve and Data Analysis
Learn how to validate heterozygous gene deletions using SYBR Green-based qPCR. Step-by-step guide with melt curve analysis, and ΔCt/ΔΔCt interpretation.... Read more.
Understanding FATHMM: A Beginner’s Guide to This In Silico Prediction Tool
A beginner-friendly guide to FATHMM, an in silico tool that uses Hidden Markov Models to predict the pathogenicity of missense variants. Learn how it works, how... Read more.
PrimateAI Made Simple: Understanding Mutation Impact with Evolution and AI
PrimateAI is an AI tool developed by Illumina in 2018 to predict the pathogenicity of missense mutations using primate genetics and deep learning. This beginner-friendly... Read more.
Understanding Spectrophotometry Using NanoDrop 2000: Measuring DNA Concentration and Purity
Learn how to use the NanoDrop 2000 spectrophotometer to accurately measure DNA concentration and assess sample purity. Understand the principles of absorbance photometry,... Read more.
Urine Reducing Substances: A Quick Bedside Clue Using Benedict’s Test
Learn how the Benedict’s test helps detect reducing substances in urine, including glucose, galactose, and fructose. Understand its chemical basis, clinical uses... Read more.
Designing Primers for PCR/Sanger Sequencing Using Ensembl and NCBI Primer-BLAST: Step-by-Step Guide
Learn how to design PCR/Sanger sequencing primers using Ensembl and NCBI Primer-BLAST with a real-life example. A complete step-by-step guide for genetics labs and... Read more.
Prenatal USG in Lethal Skeletal Dysplasias: A Clinical Geneticist’s Toolkit
Learn how clinical geneticists can interpret key ultrasound markers to identify lethal skeletal dysplasias early and accurately in pregnancy.... Read more.
Primer Selection Guidelines: A Comprehensive Guide to Designing High-Performance Primers for PCR and Sequencing
A complete guide to PCR and sequencing primer design: length, Tm, GC content, dimers, specificity, and software tools—made simple and practical.... Read more.