1. Explaining the assembly model Valerie Schneider NCBI 21 September 2014 2. Dilthey et al.Paten et al. Scientific Models 3. • Differences between the reference genome…

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

1. Deanna M. Church Staff Scientist, NCBI @deannachurch The intersection of genome assembly and variation management. 2. http://genomereference.org Valerie Schneider, NCBI…

PowerPoint Presentation Advancing the Human Reference Assembly Valerie Schneider NCBI 25 February 2015 The Human Reference Genome: Today, Tomorrow and Next ? http://genomereference.org…

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