The company will be the first to integrate whole genome sequencing (WGS) into Epic's Aura platform, further advancing access ...

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 ...

Genetic analysis of palmoplantar keratoderma highlights diagnostic value and associated risks, like cardiomyopathy.

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， ...

What is bioinformatics? The discipline of bioinformatics integrates biology and computer science to improve our understanding ...

Exact Sciences Corp. (Nasdaq: EXAS), a leading provider of cancer screening and diagnostic tests, today announced that the company expects to report revenue of $713 million for the fourth quarter ...

GeneDx Holdings Corp. , a leader in delivering improved health outcomes through genomic insights, today reported preliminary financial results for the fourth quarter and full year of 2024. "2024 was a ...

Natera, Inc. , a global leader in cell-free DNA testing, will provide an update to the investment community, today, at the 43rd annual J.P. Morgan Healthcare Conference. In addition to its previously ...

Illumina advances NovaSeq X Series, delivering single-flow-cell system, software upgrade, and new kits to enable multiomic applications: San Diego Thursday, January 9, 2025, 14:00 ...

Targeted Oncology provides news, videos, and reviews on the rapidly evolving world of targeted therapies and immunotherapy for oncologists treating patients in a community setting.

Sequencing refers to the techniques used to determine the primary structure of an unbranched biopolymer (DNA, RNA, protein, carbohydrate) resulting in a symbolic linear depiction of the monomeric ...