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The Choice They Made

After a prenatal diagnosis of Edwards syndrome, a couple chose[…]

Fast, Accurate, and Fluorescent: Using QF-PCR to Decode Sex Chromosome Disorders

Learn how QF-PCR helps detect sex chromosome aneuploidies like Turner[…]

When a Diagnosis Is Not the Only Burden

Families of children with rare genetic disorders often face not[…]

Hope After The Report

A reflection by a DM Medical Genetics trainee on shifting[…]

qPCR For Deletion Analysis: A Practical Guide

Learn how to use SYBR Green qPCR to detect heterozygous[…]

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[…]

Understanding FATHMM: A Beginner’s Guide to This In Silico Prediction Tool

A beginner-friendly guide to FATHMM, an in silico tool that[…]

PrimateAI Made Simple: Understanding Mutation Impact with Evolution and AI

PrimateAI is an AI tool developed by Illumina in 2018[…]

Understanding Spectrophotometry Using NanoDrop 2000: Measuring DNA Concentration and Purity

Learn how to use the NanoDrop 2000 spectrophotometer to accurately[…]

Urine Reducing Substances: A Quick Bedside Clue Using Benedict’s Test

Learn how the Benedict’s test helps detect reducing substances in[…]