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 ...

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 SAGC is NATA accredited and offers a wide range of genomics and bioinformatics services (e.g., RNA, WGS, WES, epigenomics, metagenomics, single cell and spatial). The SAGC supports all areas ...

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 ...

The pluripotent and multipotent stem cells are found in the bone marrow, which can differentiate into any tissue in the body.

Lab21 Healthcare Ltd ("Lab 21"), a non-trading subsidiary of Novacyt, has pleaded guilty at Exeter Magistrates Court today to health and safety charges relating to the historical operation of its site ...

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 ...

基因测序和数据分析：采用全外显子测序（Whole - exome sequencing，WES）和全基因组测序（Whole - genome sequencing，WGS）技术，不同机构遵循特定但有共同结构的协议进行。对测序结果进行生物信息学分析，使用 VariantValidator 验证变异，按照人类基因组变异协会（HGVS ...

引言第四届“BCM-CUHK国际生殖遗传培训班”的最后一天，有幸邀请到了复旦大学附属妇产科医院遗传中心主任徐晨明教授、同济大学附属妇产科医院生殖遗传科副主任张军玉教授、宁波大学附属妇女儿童医院李海波教授、哈尔滨医科大学党委书记/黑龙江省医学科学院院长/中国工程院院士张学院士、中南大学医学遗传学研究中心副主任梁 ...

Genalive will offer services in whole genome sequencing (WGS), whole exome sequencing (WES), monogenic disease panel, non-invasive prenatal testing (NIPT), hereditary cancer screening, and ...