Focus on Inborn Errors of Immunity expands access to exome and genome testing for the known 200,000+ patients in the US 1 ...

Twist Exome 2.0适用于罕见病和遗传病以及癌症胚系变异的检测。该组合均一性高，脱靶率低，能够提供一流的测序效率，让您只需较少的测序即可获取高质量的数据。 Twist Exome 2.0 覆盖了包括RefSeq、CCDS、GenCode、Clinvar、ACMG73 等主要遗传数据库，并增加了与临床相关 ...

The pipeline utilizes several external databases as illustrated in the figure. The sources of these databases are summarized in the table below. The test data provided in this documentation ...

Researchers studying over 2,000 Ashkenazi Jewish centenarians uncovered two rare IGF-1 gene variants linked to exceptional ...

To diagnose them, clinicians use a standard procedure known as exome sequencing. This involves analysing those segments of ...

Research analysts at StockNews.com initiated coverage on shares of Syros Pharmaceuticals (NASDAQ:SYRS – Get Free Report) in a research note issued to investors on Friday. The brokerage set a “sell” ...

This strategic indication expansion underscores the importance of improving access to exome and genome testing for patients with CP to shorten the diagnostic odyssey and accelerate the path to ...