复旦生殖遗传与健康论坛-20200802期

李劲松 研究员...

In June

In June REN Luyao will become a graduate student of School of Life Sciences,Fudan University. Wish her an academic success and a smooth life of scientific research. Our graduate student ZHANG Xue, who now is a clinical research specialistat Medtronic Inc. Wish her a happy work. Dr.CHEN Lu will go to the...

Welcome

Welcome Professor Yanhua Wu and her team. We all believe the new collaborations will be fruitfill.

TBX6 Null Variants and a Common Hypomorphic Allele in Congenital Scoliosis

N Engl J Med. 2015 Jan 22;372(4):341-50. Background: Congenital scoliosis is a common type of vertebral malformation. Genetic susceptibility has been implicated in congenital scoliosis. Methods: We evaluated 161 Han Chinese persons with sporadic congenital scoliosis, 166 Han Chinese controls, and 2...

Welcome

The Genomic Disorders Group was created in 2009 at State Key Laboratory of Genetic Engineering, Fudan University, Shanghai, China. Our researches mainly focus on human genomic rearrangements and large-scale DNA mutations, such as copy number variations (CNVs) and structural variations (SVs). We are asking: ...

AccuCopy for CNV Genotyping

Journal of Human Genetics (2012) 57, 545–551 Local genomic architecture, such as segmental duplications (SDs), can induce copy number variations (CNVs) hotspots in the human genome, many of which manifest as genomic disorders. Significant technological advances have been achieved for genome-wide CNV...