目前，精准的分子诊断对于明确听力损失的遗传病因至关重要，它能帮助临床医生预测患者预后并制定合适的治疗方案。但由于听力损失在遗传上具有高度异质性，且表型表达多样，准确的遗传诊断颇具难度。全外显子测序（WES）作为常用的遗传诊断手段，虽在一定程度上助力了听力损失的研究，如在不同种族人群中通过 WES 和靶向测序发现了部分致病基因，但其存在明显局限性。WES 主要针对占基因组仅约 1 - 2% ...

Key genetic contributors include single-gene mutations in SHANK3, MECP2, FMR1, and PTEN, which can cause autism-related ...

Chirality refers to the three-dimensional molecular asymmetry that prevents a molecule from being superimposed on its mirror ...

Parse Biosciences, the leader in scalable and accessible single cell sequencing, is pleased to welcome the South Australian Genomics Centre (SAGC) as the newest member of its Certified Service ...

The fight to cover Maryland’s $3.3 billion-and-growing budget deficit could end in the coming days. Watch Thursday’s news conference on a budget deal.

When Maryland Gov. Wes Moore (D) took the stage at the annual Gridiron Club dinner Saturday night, he mockingly made mention of the thing Democrats have been buzzing about for months: his ...

Health secretary Wes Streeting has put his foot in his mouth again, this time, claiming there’s “definitely an overdiagnosis” of mental illness in the UK. Apparently, those of us struggling ...

CINCINNATI — Wes Miller held his final 700 WLW radio show of the season on Thursday at the original Montgomery Inn and updated the team's outlook when it comes to the College Basketball Crown ...

Wes is the Chief Meteorologist for WBRC 6 News. He joined WBRC in 2010 and prior to becoming Chief Meteorologist, served as Weekend Evening Meteorologist and Severe Weather Analyst. Wes is from ...

The advent of next-generation sequencing (NGS) technologies has precipitated remarkable progress in our understanding of genetic diseases. Sequencing (WES) and Whole Genome Sequencing (WGS) have ...

During Sunday's "Face the Nation," Maryland Gov. Wes Moore addressed how the Trump administration's policies are impacting the state. The governor talked about tariffs and their effect on Maryland ...