This year’s edition of the European Society of Human Genetics Congress took place in the beautiful city of Gothenburg, Sweden. Our CTO Dr. Zhenyu Xu gave an exclusive talk entitled “Hereditary disorder solutions powered by SOPHiA: Overcoming challenges to increase diagnostic yield”, sharing our vision and expertise. At this occasion, the SOPHiA Whole Exome Solution was unveiled; this innovative solution enables unparalleled detection of SNPs, Indels and CNVs in one single experiment.

At our booth, clinicians were invited to discover the full potential of SOPHiA platform, which enables:

  • fast and comprehensive analysis of genomic data for accurate detection of variants associated with hereditary disorders;
  • advanced filtering features to focus only on relevant variants and significantly reduce turnaround time;
  • integrated workflow combining Alamut for deep variant exploration, thus facilitating variant interpretation.

We are already looking forward to the 2020 edition that will take place in Berlin, June 6-9!