![]() ![]() Readers are cautioned not to place undue reliance on these forward-looking statements and any such forward-looking statements are qualified in their entirety by reference to the following cautionary statements. All statements other than statements of historical fact are forward-looking statements, including statements relating to the uses, accuracy, coverage, advantages, quality or performance of, or benefits or expected benefits of using, PacBio products or technologies, including Paraphse, and other future events. Private Securities Litigation Reform Act of 1995. This press release may contain "forward-looking statements" within the meaning of Section 21E of the Securities Exchange Act of 1934, as amended, and the U.S. For more information, please visit follow products are provided for Research Use Only. Our products address solutions across a broad set of research applications, including human germline sequencing, plant and animal sciences, infectious disease and microbiology, oncology, and other emerging applications. Our products and technology under development stem from two highly differentiated core technologies focused on accuracy, quality, and completeness which include our existing HiFi long-read sequencing and our emerging SBB® short-read sequencing technologies. ![]() (NASDAQ: PACB) is a premier life science technology company that is designing, developing, and manufacturing advanced sequencing solutions to help scientists and clinical researchers resolve genetically complex problems. In addition, the authors identified a pair of haplotypes that can serve as a genetic marker for alleles carrying two copies of SMN1 in African populations, demonstrating the potential of haplotype-based screening of silent carriers. The study also identified major SMN1 and SMN2 sequence haplogroups and characterized their co-segregation through pedigree-based analyses. In a recent peer-reviewed publication, Paraphase was able to detect these pathogenic variants for SMA. High throughput detailed sequence analysis of complete genes is challenging using existing technologies, and identifying silent carriers (having two copies of SMN1 on one chromosome and zero copies on the other, accounting for 27 percent of carriers in African populations) is impossible without pedigree information. Mutations in SMN1 cause spinal muscular atrophy (SMA), a leading cause of early infant death. SMN1 is >99.9 percent similar in sequence to its paralog, SMN2, and both genes have variable copy numbers across populations. Paraphase has been used on several medically relevant genes with highly similar paralogs or pseudogenes, including, CYP21A2 (21-hydroxylase-deficient congenital adrenal hyperplasia), TNXB (Ehlers-Danlos syndrome), STRC (hereditary hearing loss and deafness) and SMN1 and 2 (spinal muscular atrophy). We believe that applying this method to larger, diverse, population data will ultimately enable researchers to better understand medically important problems, such as silent carriers for spinal muscular atrophy." "This will allow researchers to conduct more accurate carrier analyses and provide a framework for studying the underlying genetics of these complex genomic regions. "Through the use of Paraphase, we are able to identify the full sequence of each copy of a gene and, importantly, identify the number of functional and non-functional copies of a gene," said Mike Eberle, Vice President of Computational Biology at PacBio. ![]() (PRNewsfoto/Pacific Biosciences of California, Inc.) ![]()
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