At the European Society of Human Genetics annual meeting in Copenhagen this week, several groups presented studies involving automated facial analysis software.
Using exome sequence and phenotyping data for individuals from longitudinal population studies, investigators began parsing pathogenic mutation effects in the genes.
Genomiser correctly prioritized causal variants in as much as 68 percent of experimental cases, improving on numbers from comparable tools like Phen-Gen.
Three papers published this week offer fine-grained detail about the Exome Aggregation Consortium's analysis and methods, showing the data's value in a specific use case.
In a pilot study published in AJHG, nine labs initially agreed for only 34 percent of variants, but for 71 percent after discussing the evidence and use of guidelines in detail.
