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So, how is rare cancer different from regular cancer? And why should there be separate awareness? September 30th is annual Rare Cancer Day for awareness,...
So, how is rare cancer different from regular cancer? And why should there be separate awareness? September 30th is annual Rare Cancer Day for awareness,...
From Lab Bench to AI Algorithms: Why Traditional R&D Alone May Not Be Adequate for Biotech Growth Following Compass Bioinformatics’ major investment news, we explore...
Genomic Analysis Software: A Comprehensive Guide for Healthcare Facilities and Patients Imagine a spell-checker, but for DNA: compared to displaying a misspelt word, it detects...
Introduction: Why Rare Disease Screening Matters Rare diseases are individually uncommon, yet collectively affect 300 millions of people worldwide [1]. For many families, the journey...
It once took over 10 years and $3 billion to sequence a single human genome. Today, thanks to Next-Generation Sequencing, that same analysis can be...
“We Didn’t Know It Had a Name”: Recognizing Fragile X Syndrome in Real Life It often starts with subtle signs: a toddler who isn’t speaking...
Neurofibromatosis: From early recognition to genetic variants and the new international criteria Neurofibromatosis (NF) is the name for a group of related but distinct genetic...
The Core Challenge Some of the largest challenges in connecting a patient’s health status to the genomic data at hand are due to the lack...
Dravet Syndrome: The Critical Importance of Early Diagnosis by Genome Sequencing & Variant Identification Over 80% of DS patients suffer from truncating and missense mutations...
