ClinLabGeneticist is a tool to assist geneticist for diagnosis of pathogenic variants from WES data. More than 10 public known databases are used for variant annotation. In the new version 2.2, this tool works in windows environment (window 7, 8). The tool is free for academia and can be downloaded from  ClinLabGeneticistVersion2.28. If you met some problem such as “‘Microsoft.ACE.OLEDB.12.0”, please install...

Rong Chen Principal Investigator Rong Chen is the Director of Clinical Genome Informatics and Assistant Professor at the department of Genetic and Genomics Sciences in Icahn School of Medicine at Mount Sinai. Dr. Chen has developed many databases, software, and patents to drive precision medicine and clinical diagnosis using next generation sequencing and integrative genomics at Icahn School of Medicine at Mount Sinai, Personalis, Stanford...

Jun 24th, 2016. A loss of function variant in CASP7 protects against Alzheimer’s disease in homozygous APOE ε4 allele carriers. was published on BMC Genomics. In this paper, a novel approach was propsed and aim to uncover protective alleles against AD by analyzing genetic and phenotypic data in Mount Sinai Biobank and Electronic Medical Record (EMR) databases. Discovery from our research shows a likely loss-of-function small deletion variant in...

Location and direction Our office locates at 333 Ludlow Street Stamford CT 06902. It is easy to take exit 8  from I-95 and drive to Canel street, our office is the at the end of Canel street. If you take Metro North, get off at Stamford station, there is a 333 Ludlow street shuttle. In the morning shuttles run starting at 7 AM between the Stamford train station and 333 Ludlow St.  From 10 AM until 2:30 PM and again from 8 PM to 10:30 PM they...

Routine clinical application of whole exome sequencing remains challenging due to difficulties in variant interpretation, large dataset management and workflow integration. We describe a tool named ClinLabGeneticist to implement a workflow in clinical laboratories for management of variant assessment in genetic testing and disease diagnosis. We established an extensive variant annotation data source for the identification of pathogenic...