向嘉乐（xiangjiale@genomics.cn）。现任华大股份研发中心研发总监。研究方向为单基因遗传病筛查和诊断、医疗器械注册申报、高通量测序检测技术的临床应用和转化。深圳市“孔雀计划”海外高层次人才，深圳市盐田区“梧桐计划”梧桐凤凰人才。
研究方向：遗传病的基因组学研究和临床转化
现任岗位：华大股份研发中心医学研发总监
教育背景：博士 基因组学 中国科学院大学
参与项目:
1.国家重点研发计划项目《人体表型解析技术体系及标准体系研发》
论文:
1. The Next Generation of Population-Based DFNB16 Carrier Screening and Diagnosis: STRC Copy-Number Variant Analysis from Genome Sequencing Data
2. Clinical impacts of genome-wide noninvasive prenatal testing for rare autosomal trisomy
3. VIP‐HL: Semi‐automated ACMG/AMP variant interpretation platform for genetic hearing loss
4. 孕妇外周血浆胎儿游离DNA高通量测序筛查致病性拷贝数变异的技术标准共识
5. A multiplex PCR amplicon sequencing assay to screen genetic hearing loss variants in newborns
6. Molecular diagnosis of non‐syndromic hearing loss patients using a stepwise approach
7. An automatic classification tool for PVS1 interpretation of null variants
8. Concurrent hearing and genetic screening in a general newborn population
9. Increased diagnostic yield by reanalysis of data from a hearing loss gene panel
10. Nationwide population genetic screening improves outcomes of newborn screening for hearing loss in China
11. Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples
专利:
1.LOXH1基因突变体及其应用
2.用于扩增GJB2基因和SLC26A4基因的引物组、试剂盒和方法
3.一种编码MITF基因突变体的核酸及其应用
4.检测染色体拷贝数变异的方法
5.提高孕妇外周血中胎儿游离DNA浓度的方法及其应用
