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Managing and Comparing Assemblies DM Church, NCBI
Adapted from Drew Sheneman, New Jersey -- The Newark Star Ledger
What’s in a name? Bob Bob Bob Bob
What’s in a name? Bob 123-45-6789 * *http://howmanyofme.com
What’s in a name? Bob Samantha Miranda Lydia
Mouse chrX: 35,000,000-36,000000
Mouse chrX: 35,000,000-36,000000 X MGSCv3 Build 36
Unique Identification NC_000086.6
What’s in a name? GRCh37 hg19 Zv7 danRer5 Build37 mm8 NCBIM37
What’s in a name?
Assemblies with the same name aren’t always the same chr21:8,913,216-9,246,964
Assemblies with the same name aren’t always the same Zv7 chr21:8,913,216-9,246,964 X Mouse Build 36 chrX
Genomic Collections to the rescue GRCh37 hg19 GCA_000001405.1
Genome Browser Agreement Submitter deposits assembly to GenBank/EMBL/DDBJ Assembly QA  Submitter updates assembly based on QA results Browsers pick up assembly from GenBank/EMBL/DDBJ
Genome Browser Agreement Assemblies must be in  GenBank/EMBL/DDBJ
Decided lack of enthusiasm for new assemblies Graves, FF0107 Oh No! Not a new version of the human genome! http://genomereference.org
GRCh37
Conflict: locus specific users vs. whole genome users
How do we decide when to upgrade? Phenotypes: Developmental Delay Head circumference Autism Schizophrenia 1q21 Brunetti-Pierri et al., 2008
Any easier way to find the differences HG-21 Description: ESP analysis suggests the reference chromosome contains an inversion within AL139246.20. Resolution: AL139246.20 was updated to AL139246.21 on 20 January, 2007. issue reported in this ticket (an inversion)
Any easier way to find the differences
Any easier way to find the differences HG-2 Build 36, chr 4 (NC_000004.10) GAP GRCh37, chr4 (CM000666.1) GRCh37, alt locus 8 (GL000257.1) Xue Y et al, 2008
Alignments, Alignments, Alignments
Any easier way to find the differences- better alignments
Thanks… NCBI Genome Pipeline staff Avi Kimchi Paul Kitts Mike DiCuccio Nathan Bouk Josh Cherry  Cliff Clausen Wratko Hlavina Valerie Schneider Genome Reference Consortium The Genome Center at Washington University The Wellcome Trust Sanger Institute The European Bioinformatics Institute The National Center for Biotechnology Information
URLs mentioned in talk AGP Specification and Validation http://www.ncbi.nlm.nih.gov/genome/assembly/agp/ Genome Workbench http://www.ncbi.nlm.nih.gov/projects/gbench Sequence Viewer http://www.ncbi.nlm.nih.gov/projects/sviewer Genome Reference Consortium http://genomereference.org How Unique is your name? http://howmanyofme.com

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Church Fif2009

  • 1. Managing and Comparing Assemblies DM Church, NCBI
  • 2. Adapted from Drew Sheneman, New Jersey -- The Newark Star Ledger
  • 3. What’s in a name? Bob Bob Bob Bob
  • 4. What’s in a name? Bob 123-45-6789 * *http://howmanyofme.com
  • 5. What’s in a name? Bob Samantha Miranda Lydia
  • 9. What’s in a name? GRCh37 hg19 Zv7 danRer5 Build37 mm8 NCBIM37
  • 10. What’s in a name?
  • 11. Assemblies with the same name aren’t always the same chr21:8,913,216-9,246,964
  • 12. Assemblies with the same name aren’t always the same Zv7 chr21:8,913,216-9,246,964 X Mouse Build 36 chrX
  • 13. Genomic Collections to the rescue GRCh37 hg19 GCA_000001405.1
  • 14. Genome Browser Agreement Submitter deposits assembly to GenBank/EMBL/DDBJ Assembly QA Submitter updates assembly based on QA results Browsers pick up assembly from GenBank/EMBL/DDBJ
  • 15. Genome Browser Agreement Assemblies must be in GenBank/EMBL/DDBJ
  • 16. Decided lack of enthusiasm for new assemblies Graves, FF0107 Oh No! Not a new version of the human genome! http://genomereference.org
  • 18. Conflict: locus specific users vs. whole genome users
  • 19. How do we decide when to upgrade? Phenotypes: Developmental Delay Head circumference Autism Schizophrenia 1q21 Brunetti-Pierri et al., 2008
  • 20. Any easier way to find the differences HG-21 Description: ESP analysis suggests the reference chromosome contains an inversion within AL139246.20. Resolution: AL139246.20 was updated to AL139246.21 on 20 January, 2007. issue reported in this ticket (an inversion)
  • 21. Any easier way to find the differences
  • 22. Any easier way to find the differences HG-2 Build 36, chr 4 (NC_000004.10) GAP GRCh37, chr4 (CM000666.1) GRCh37, alt locus 8 (GL000257.1) Xue Y et al, 2008
  • 24. Any easier way to find the differences- better alignments
  • 25. Thanks… NCBI Genome Pipeline staff Avi Kimchi Paul Kitts Mike DiCuccio Nathan Bouk Josh Cherry Cliff Clausen Wratko Hlavina Valerie Schneider Genome Reference Consortium The Genome Center at Washington University The Wellcome Trust Sanger Institute The European Bioinformatics Institute The National Center for Biotechnology Information
  • 26. URLs mentioned in talk AGP Specification and Validation http://www.ncbi.nlm.nih.gov/genome/assembly/agp/ Genome Workbench http://www.ncbi.nlm.nih.gov/projects/gbench Sequence Viewer http://www.ncbi.nlm.nih.gov/projects/sviewer Genome Reference Consortium http://genomereference.org How Unique is your name? http://howmanyofme.com