The study, presented at the virtual ASHG annual meeting this week, analyzed phenotypes in carriers of different recessive Mendelian diseases.
The genetic testing and health intelligence firm will start trading on the Nasdaq Global Select Market on Friday under the ticker symbols SMFR and SMFRW.
The exome sequencing study, presented at the ACMG annual clinical genetics meeting, implicated several neurological, cardiac, and systemic disease genes in the condition.
The company is also working on a new Saphyr system that will have 14 times higher throughput than the current one, which can analyze 5,000 human genomes per year.
The Syntax instrument, available later this year, will initially be able to make batches of 96 oligos of 60-mer length at a time with same-day turnaround.
The Wellcome Sanger Institute and the BC Centre for Disease Control Public Health Lab have been using viral sequencing to follow the spread of variants of concern.
During a conference call, company executives also discussed results from the SMART NIPT trial and their outlook for Natera's three businesses.
Under the Ge-Med project, University Hospital Tübingen will offer diagnostic whole-genome sequencing for all genetic indications and will include PRS in its reporting.
The RT-LAMP-based platform, which the researchers plan to commercialize through a spinout company, could be adapted for other infectious disease tests.
The approach considers kinetic signals from the DNA polymerase used in PacBio sequencing, as well as the sequence context, to determine cytosine methylation sites.