News Article | February 16, 2017
SAN FRANCISCO & ST. LOUIS--(BUSINESS WIRE)--Cofactor Genomics, a software-driven biotechnology company developing unique molecular diagnostics centered on RNA, has launched a clinically-validated oncology assay which provides unique insight into a patient’s cancer profile. The assay, named Cofactor Pinnacle, utilizes the company’s proprietary software technology to compare each patient’s cancer expression profile to Cofactor’s database of thousands of expression profiles from the same cancer type. The assay reports on both aberrant oncology-relevant gene expression and known cancer gene fusions detected in the tumor sample. In 2016, after multi-year efforts to standardize and certify Cofactor’s foundational molecular protocols for clinical use, Cofactor became one of the first laboratories to receive CAP-accreditation for RNA-seq. Pinnacle is built on the foundation of these protocols; the assay is currently approved for use with Formalin-Fixed, Paraffin-Embedded (FFPE) tumor tissue. Cofactor has secured early-access partnerships for the assay within two key groups: drug developers and academic medical centers. Within the drug development pipeline, Pinnacle is being used to identify new patient populations and explain phenotypic responses in trials. In the clinic, Cofactor Pinnacle is providing potential treatment targets for patients who have not responded to first or second line chemotherapy. “Clinical oncology has relied so heavily on the development of DNA assays, but there’s still a biological gap to be addressed. Recognizing RNA’s ability to identify relevant targets in cancer drug development, as well as more accurately predict the correct treatment for cancer patients, are the key reasons we have built a company committed to developing technologies to interpret the complex data represented by RNA. Cofactor’s Pinnacle adds valuable biological context that’s needed and currently missing from oncology assays,” noted Cofactor CEO, Dr. Jarret Glasscock. Pinnacle is offered as a laboratory-developed test exclusively through Cofactor’s CAP-accredited laboratories. Pinnacle will be featured at CHI’s 24th International Molecular Med TRI-CON 2017. Jon Armstrong, Cofactor’s CSO will present "Reaching the Pinnacle: A Unique Cancer Diagnostic Tool that Harnesses the Power of RNA" on Tuesday, February 21 at 11:45 am - 12:15 pm in the Molecular Diagnostics track. Cofactor Genomics uses RNA to diagnose disease. Y Combinator backed Cofactor is founded by three former Human Genome Project molecular and data scientists who are developing key technologies to enable RNA’s use in understanding and diagnosing disease in the 95 percent of disease that can’t be diagnosed with DNA alone. Cofactor has contracts with eight of the world’s largest pharma and biotech companies, providing pre-clinical RNA sequencing and analysis, custom assay development, and clinical RNA sequencing. With the acquisition of Narus Biotechnologies in 2015 and a fully-funded Phase II SBIR grant, Cofactor has expanded into the molecular diagnostics arena, centered on oncology and neurodegenerative diseases. Find out more about Cofactor Genomics at cofactorgenomics.com.
McClure M.C.,U.S. Department of Agriculture |
Bickhart D.,U.S. Department of Agriculture |
Null D.,U.S. Department of Agriculture |
VanRaden P.,U.S. Department of Agriculture |
And 9 more authors.
PLoS ONE | Year: 2014
The recent discovery of bovine haplotypes with negative effects on fertility in the Brown Swiss, Holstein, and Jersey breeds has allowed producers to identify carrier animals using commercial single nucleotide polymorphism (SNP) genotyping assays. This study was devised to identify the causative mutations underlying defective bovine embryo development contained within three of these haplotypes (Brown Swiss haplotype 1 and Holstein haplotypes 2 and 3) by combining exome capture with next generation sequencing. Of the 68,476,640 sequence variations (SV) identified, only 1,311 genomewide SNP were concordant with the haplotype status of 21 sequenced carriers. Validation genotyping of 36 candidate SNP identified only 1 variant that was concordant to Holstein haplotype 3 (HH3), while no variants located within the refined intervals for HH2 or BH1 were concordant. The variant strictly associated with HH3 is a non-synonymous SNP (T/C) within exon 24 of the Structural Maintenance of Chromosomes 2 (SMC2) on Chromosome 8 at position 95,410,507 (UMD3.1). This polymorphism changes amino acid 1135 from phenylalanine to serine and causes a non-neutral, non-tolerated, and evolutionarily unlikely substitution within the NTPase domain of the encoded protein. Because only exome capture sequencing was used, we could not rule out the possibility that the true causative mutation for HH3 might lie in a nonexonic genomic location. Given the essential role of SMC2 in DNA repair, chromosome condensation and segregation during cell division, our findings strongly support the non-synonymous SNP (T/C) in SMC2 as the likely causative mutation. The absence of concordant variations for HH2 or BH1 suggests either the underlying causative mutations lie within a nonexomic region or in exome regions not covered by the capture array.