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.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. Converting from Analog to DigitalIntegrating the historical archive of human variation in an NGS worldDeanna M. ChurchStaff Scientist, NCBI@deannachurch Genome Informatics…

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

Detecting Copy Number Variation With Short Paired Reads Department of Computer Science University of Toronto Genome Informatics 2009 Paul Medvedev, Marc Fiume, Misko Dzamba,…

Genome Representation and Variant Identification The Human Reference Assembly Deanna M. Church Staff Scientist, NCBI @deannachurch Short Course in Medical Genetics 2013 Updating…

1. ..1.,.. (495) 660-83-77,« .26» 2. CNVs CNPs. 3. >20. >9FISHSNP CNV(> 1 kb).CNPMLPA STR. ..(>500 000).. 4. (42) CNV Ahn et al 20094773Altshuler_et_al_2010…

1. AssemblyUnderstanding the human reference genome Deanna M. Church Staff Scientist, NCBI26 Mar 2013 2. Valerie Schneiderhttp://genomereference.org 3. The Reference Assembly…