Currently, next-generation sequencing can be used in clinical scenarios detecting CNVs, and the use of exome sequencing in the DD cohort ahead of the microarray test has not been evaluated. Methods ...

mayo.edu Background Inherited polyneuropathies often go undiagnosed. We investigated whole exome sequencing (WES) in utility to identify the genetic causes of diverse forms of inherited ...

After 50 years, scientists discover the MAL blood grouping system, solving a genetic mystery and improving transfusion safety ...

全外显子基因检测是一种针对家族性疾病、遗传代谢性疾病以及罕见疾病的检测技术。它是对蛋白编码的序列直接测序，从而发现蛋白结构的变异，还能发现变异频率低于1%的罕见变异。该检测主要用于寻找遗传疾病相关的基因变异情况，进行遗传病的诊断、鉴别诊断、排除诊断， ...

The US company said that results from the Alpha-CORRECT trial saw its colon cancer diagnostic Oncodetect achieving a ...

Solomon Moshkevich, Natera's president of clinical diagnostics, said that the firm has seen strong growth in MRD testing in 2023 and 2024 that has been driven by both new physician users and existing ...

"Joining Epic’s Aura Network will enhance our customer experience and increase accessibility to the genetic testing services we provide," said Kengo Takishima, President and Chief Executive Officer at ...

The Direct-to-Consumer Genetic Testing market is anticipated to sustain a robust Compound Annual Growth Rate (CAGR) of 9.45% ...

GeneDx Corp's 2024 success story: profitability, 100x returns, NICU market expansion, pediatric neurology diagnostics, and ...

Genome Med. 2022 Feb 28;14(1):23. doi: 10.1186/s13073-022-01026-w. Soden SE, Saunders CJ, Willig LK, et al. Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of ...