Ben Busby, Ph.D.
Genomics Outreach Coordinator
NCBI
ben.busby@nih.gov
Genomic Variation in the Rising Era of Individual Genome Sequence
Graphic Credit:
Spencer Martin, UBC
© Martine Zilversmit 2013
http://1.usa.gov/1J1xmYs
NCBI NGS Online Workshop – Available on the
NCBI YouTube Channel!
14,201
53,216
139,311
374,464
485,727
566,181
660,665
876,849
1,002,935
2007 2008 2009 2010 2011 2012 2013 2014 2015
Subjects
sam-dump.2.6.3 --aligned-region 17:41243452-41277500
SRR925743 > BRCA1.sam
(use screen or &)
http://www.ncbi.nlm.nih.gov/projects/sviewer/?id=NC_000009.11&app_context=Variation_Viewer_1-1&srz=SRR1556217&v=21967751:21994490
https://goo.gl/8GPv8S
E-Utilities (Eutils)
Video available at:
http://www.ncbi.nlm.nih.gov/education/webinars/
61
E-Utilities (Eutils)
62
Introducing… Entrez Direct
The E-utilities on the UNIX
command line
esearch –db gene –query “foxp2[gene]
AND human[orgn]” | 
elink –target protein –name
gene_protein_refseq | 
efetch –format fasta
ftp.ncbi.nlm.nih.gov/entrez/entrezdirect/
63
Edirect Cookbook
64
Moving from FTP-scraping
cron jobs to on-demand APIs
65
Edirect Cookbook (DRAFT)
66
New APIs!
67
Generating apps that work with
our APIs and Data Structures,
and Improve Metadata:
NCBI Hackathons!
www.iMetric.io
Available to
anyone on AWS
First 5 lectures
now available
on
www.iMetric.io
www.iMetric.io
6 Functional Software Products 3 Days
January 2016 6 functional software products 3 days
Combined score is
the average of SVs,
mappability, GC..
NCBI region list
Encode blacklist
In Twitter
@NCBI
@DCGenomics
Biomedical Informatics Hackathon January 9th –
11th NIH Campus, Bethesda!
NCBI Genomics Hackathon March 20-22nd NIH
Campus, Bethesda

Umcp cs talk_11_3_16_v1

Editor's Notes

  • #8 Now… with AMR data!
  • #9 Now… with AMR data!
  • #27 163 studies with >50,000 cancer patients, generally with matched controls
  • #45 Now… with AMR data!
  • #46 Now… with AMR data!
  • #47 Now… with AMR data!
  • #48 Now… with AMR data!
  • #50 Now… with AMR data!
  • #51 Now… with AMR data!
  • #52 Now… with AMR data!
  • #53 Now… with AMR data!
  • #54 Now… with AMR data!
  • #55 Now… with AMR data!
  • #56 Now… with AMR data!
  • #57 Now… with AMR data!
  • #58 Now… with AMR data!
  • #59 Now… with AMR data!
  • #60 Now… with AMR data!
  • #85 Partnering with the Society for Canadian Women in Science and Technology
  • #98 All cancer cells arise from a normal somatic cell, therefore most primary cancers express adequate amounts of HLA identify the specific peptides that mark the tumor as 'dangerous’ T cells recognize peptides that are presented by human leukocyte antigen tumors harbor hundreds of putative neoepitopes without the benefit of information from T cell responses, it’s virtually impossible to develop a vaccine, but we can aim at narrowing down the candidate peptides
  • #100 Now… with AMR data!