The Resilience Project – Software The Resilience Project offers two software tools to the community to scan their sequencing or genotyping data for potential unexpected heroes. You can use these two Java tools to scan VCF and other files for 1) exact allele matches against the UHP core allele panel as well as 2) early terminations in a list of genes; from version 2 onwards, formats such as GFF, CNS, and samtools pileup calls will be...

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...

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...

Outlined are the main elements you will be using to update this website.  Any features not noted in this document can be ignored (they are either not used or are advanced administration settings which should not be modified). WordPress Administration Panel: https://rongchenlab.org/wp-admin   Publications Follow these step to add new publications. Go to the top admin bar and click +New > Post. Add your publication title and add...