church get-rm

GeT-RM Project and Browser

Deanna M. Church

@deannachurch

Project Team

Lisa Kalman, CDCBirgit Funke, Harvard PartnersMadhuri Hegde, Emory

Guidance and Direction ImplementationChen Chao, NCBIDouglas Slotta, NCBIJonathon Trow, NCBIPeter Meric, NCBIVictor Ananiev, NCBIDaniel Frishberg, NCBIChunlei Liu, NCBIMaryam Halavi, NCBIWendy Rubinstein, NCBIDeanna Church, NCBI

Submitting LabsARUP Laboratories Baylor College of Medicine Medical Genetics LaboratoryBroad Institute of MIT and HarvardEmory Genetics LaboratoryGeneDxGenomics and Pathology Services at Washington University in St. LouisHarvard School of Public HealthIlluminaLaboratory for Molecular MedicineNational Institute of Standards and TechnologyUniversity of California, San Francisco Department of Laboratory MedicineUniversity of Chicago

http://www.ncbi.nlm.nih.gov/variation/tools/get-rm/details/

http://www.ncbi.nlm.nih.gov/variation/tools/get-rm

Calls

Tests

cSRA

ConcordantDiscordantNA

Target audience: Clinical testing labsSubmissions from: Clinical and Research labs

Lab Provided Validation

Variants validated in this sample using another platformVariants validated in another sample using another platformVariants seen in other samples from submitting lab using this platformVariants seen in public data setVariants that are novelVariants that were not assessed

Based on May 2013 Data release

Based on May 2013 Data release

http://www.ncbi.nlm.nih.gov/variation/tools/get-rm

MCL1

Looking forward

Analysis

Web tools

Genotype support analysis based on alignmentsDevelopment of consensus genotype setInvestigation of discordant regionsComparison to paralogous sequence variant (PSV) sitesComparison to GRCh38

Calculation of FP and FN rates Link to browser for review

Improved gene navigationAddition of PSV data tracks