Case Study: Quanam achieves rapid genomic diagnoses — cutting analysis from years to weeks with Cloudera

Quanam streamlining the next-generation of genomic sequencing saving time and saving lives

Quanam, a Uruguay-founded multi‑Latin consulting federation of ~400 specialists, partnered with Montevideo-based GenLives to speed clinical genomic analysis. Faced with next‑generation sequencing datasets so large a single genome can produce hundreds of gigabytes and millions of variants, clinicians were bottlenecked by manual literature review and slow variant classification—delaying rare‑disease diagnoses that historically took years.

Quanam built a semantic knowledge platform using Hortonworks Data Platform with Spark, NoSQL, Hive and Solr, plus NLP, machine learning and an IBM Watson–powered chatbot to automate variant classification, literature correlation and report generation. The solution cut sequencing analysis from days to hours, shortened diagnosis timelines from about five years to eight–ten weeks, has analyzed 50+ patients to date, and produces continually improving diagnostic insights as more cases are added.

Quanam

Fernando Lopez

Business Analytics - Big Data