66 Matching Annotations
  1. Jun 2022
    1. Among these, all VUS, variants with a zero-star reviewstatus, i.e., without any detailed review information, and those with conflicting classificationswere excluded

      dodgy labs might mark variant as pathogenic and link to assessment criteria but apply them wrongly. These might be detected if other labs post conflicting assessments. But for ultrarare variants, no other lab might have submitted that variant

  2. May 2022
  3. Apr 2022
  4. Mar 2022
  5. Jan 2022
  6. Dec 2021
  7. Oct 2021
  8. Sep 2021
  9. Jul 2021
  10. Jun 2021
  11. May 2021
    1. Faria, N. R., Mellan, T. A., Whittaker, C., Claro, I. M., Candido, D. da S., Mishra, S., Crispim, M. A. E., Sales, F. C. S., Hawryluk, I., McCrone, J. T., Hulswit, R. J. G., Franco, L. A. M., Ramundo, M. S., Jesus, J. G. de, Andrade, P. S., Coletti, T. M., Ferreira, G. M., Silva, C. A. M., Manuli, E. R., … Sabino, E. C. (2021). Genomics and epidemiology of the P.1 SARS-CoV-2 lineage in Manaus, Brazil. Science. https://doi.org/10.1126/science.abh2644

  12. Apr 2021
  13. Feb 2021
  14. Jan 2021
  15. Jul 2020
  16. Jun 2020
  17. Nov 2019
  18. Sep 2019
  19. Aug 2019
  20. Jul 2019
  21. Nov 2017
    1. We do not have to worry about both bases in both strands. Any one strand is fine. Because A always pairs with T and C always pairs with G.

  22. Sep 2017
    1. The projection score - an evaluation criterion for variable subset selection in PCA visualization

      "variable" typically means gene or locus in the context of biological data.

  23. Apr 2017
    1. The Administration could also exercise its regulatory authority—most potently, to direct the Centers for Medicare and Medicaid Services (CMS) to allow reimbursement for molecular profiling of cancers

      Perhaps the most important measure to keep precision medicine initiate alive. Surge in risk and treatment response prediction in genomic assays is of little value without practical means of affordable molecular profiling of a patient's tumor or more importantly, pre-diagnosis genomic screen.

  24. Mar 2017
    1. Genome Sequence Archive (GSA)

      Database URL is here: http://gsa.big.ac.cn/

      Note: metadata is INSDC format, but this database isn't part of the INSDC, so you'll still need to submit your data to one of those databases to meet internationally recognised mandates

    1. The ENCODE portal is the official canonical source for ENCODE data and data from other related projects.

  25. Oct 2016
    1. blast

      BLAST finds regions of similarity between biological sequences. The program compares nucleotide or protein sequences to sequence databases and calculates the statistical significance.

  26. Jun 2016
  27. Apr 2016
    1. Published in 2015

      These policies have been built on the Fort Lauderdale principles, see the original policies from 2003 https://www.genome.gov/10506537/

    1. Accession codes

      The panda and polar bear datasets should have been included in the data section rather than hidden in the URLs section. Production removed the DOIs and used (now dead) URLs instead, but for the working links and insight see the following blog: http://blogs.biomedcentral.com/gigablog/2012/12/21/promoting-datacitation-in-nature/

    1. Centralizing content and distributing labor: a community model for curating the very long tail of microbial genomes.

      This is going to be a good talk. Get your coffee, open your eyes, and open your mind! A pattern that could actually scale up - worth a try! Disagree? reply here.