1. The Evolution of the ResourcesNavigating Genome ReferenceHuman Genome at NCBIPart 1Deanna M. Church, NCBI@deannachurch 2. NCBIBLAST PubMed GenBank 3. ClinVar140,0002,500,000GTR…

1.Taking Advantage of GRCh38 Valerie Schneider 12 February 20142. Introducing GRCh38GRCh38: Dec. 24, 2013 3. Time for changeGRCh37.p13 GRCh38 • 178 Regions: 3.15% of chromosome…

1.Genome Representation andVariant Identification Deanna M. ChurchISCA Consortium Conference2. From Green ED et al. Nature 2011 3. CEPH: A=1.000 G=0http://www.ncbi.nlm.nih.gov/variation/tools/1000genomes…

1.The Evolution of Genome DataDeanna M. Church, NCBI@deannachurch2. Collins FS et al, 1998 Throughput: 500 Mb/year Cost: < $0.25 per baseVariation: 100,000 SNPs mapped…

1. Analyzing Individual GenomesDeanna M. Church Staff Scientist, NCBI@deannachurch 2. Valerie Schneider, NCBI http://genomereference.org 3. ISCAClinVarChrista Lese Martin…

PowerPoint Presentation Genome representation and variant identification Deanna M. Church, NCBI The Reference Assembly is NOT Static NCBI35 (hg17) NCBI36 (hg18) GRCh37 (hg19)…