A new study tracking the genomic evolution of chronic myeloproliferative neoplasms has shown that progression to myelofibrosis or acute myeloid leukemia is encoded in mutations that occur years before the transformation is clinically evident.
Genedx Holding Corp. launched Genomedx Prenatal, its whole genome sequencing test, to provide more definitive diagnoses of the causes of fetal abnormalities identified by ultrasound. By combining the company’s decade of experience in prenatal exome testing and its massive Genedx Infinity rare disease dataset, the test can determine not just whether a pregnancy has a risk of a genetic disorder but whether the fetus actually has a genetic disorder.
The first systematic whole genome sequencing study of how chemotherapy damages healthy tissues has shown that many, but not all, of these agents cause mutations and premature aging of normal blood cells.
The first systematic whole genome sequencing study of how chemotherapy damages healthy tissues has shown that many, but not all, of these agents cause mutations and premature aging of normal blood cells.
GC Genome Corp. priced a Kosdaq offering of 4 million shares at ₩10,500 per share May 27, entailing a gross ₩42 billion (US$30.5 million) raise in early June. The Yongin, South Korea-based genomics subsidiary of GC Biopharma Corp. fixed its shares price to the top of its ₩9,000 to ₩15,000 price band May 27 after conducting demand forecasting on domestic and international institutional investors from May 19 to May 23.
Whole genome sequencing has substantially accelerated the pace of discovery of genes that cause rare diseases, but while this has brought the diagnostic odyssey of some patients to a conclusion, 50% to 80% remain undiagnosed after initial analysis.
Whole genome sequencing has substantially accelerated the pace of discovery of genes that cause rare diseases, but while this has brought the diagnostic odyssey of some patients to a conclusion, 50% to 80% remain undiagnosed after initial analysis. Researchers in the U.K. have now developed a new framework for analyzing sequence data at a cohort level. Applying this method to almost 35,000 undiagnosed rare disease patients led to the identification of 141 new disease-gene associations.
Whole genome sequencing has substantially accelerated the pace of discovery of genes that cause rare diseases, but while this has brought the diagnostic odyssey of some patients to a conclusion, 50% to 80% remain undiagnosed after initial analysis.
Natera Inc., a developer of cell-free DNA testing, provided an update on its product portfolio at the J.P. Morgan Healthcare Conference on Jan. 15. The company disclosed a new version of the Signatera assay that leverages the genome. Natera said the test, now available for research and clinical use, enables bespoke assay design from a whole genome sequence of a patient’s tumor.
Artificial intelligence-powered rare disease diagnostics firm 3billion Inc. debuted on the tech-heavy Kosdaq board of the Korea Exchange Nov. 14 with its IPO raising about ₩14.4 billion (US$10.25 million) via an offering of about 3.2 million shares at ₩4,500 per share, the low end of its offering price range.
