Release History

0.9.2 (in progress)

  1. Provide an --annotation-dir argument that specifies the path the annotation databases, to overwrite configured data inputs. Thanks to Björn Grüning,
  2. Support reproducible versioned installs of GEMINI with Python dependencies. Enables Galaxy integration. Thanks to Björn Grüning,

0.8.0

  1. Support arbitrary annotation supplied to VEP, which translate into queryable columns in the main variant table.
  2. Improve the power of the genotype filter wildcard functionality.

0.7.1

  1. Suppress openpyxl/pandas warnings (thanks to @chapmanb)
  2. Fix unit tests to account for cases where a user has not downloaded the CADD or GERP annotation files. Thanks to Xialoin Zhu and Daniel Swensson for reporting this and to Uma Paila for correcting it.

0.7.0

  1. Added support for CADD scores via new cadd_raw and cadd_scaled columns.
  2. Added support for genotype wildcards in query select statements. E.g., SELECT chrom, start, end (gts).(phenotype==2) FROM variants. See http://gemini.readthedocs.org/en/latest/content/querying.html#selecting-sample-genotypes-based-on-wildcards.
  3. Added support for genotype wildcards in the –gt-filter. E.g., --gt-filter "(gt_types).(phenotype==2).(==HET). See http://gemini.readthedocs.org/en/latest/content/querying.html#gt-filter-wildcard-filtering-on-genotype-columns.
  4. Added support for the VCF INFO field both in the API and as a column that can be SELECT’ed.
  5. Upgraded to the latest version of ClinVar.
  6. Standardized impacts to use Sequence Ontology (SO) terms.
  7. Automatically add indexes to custom, user-supplied annotation columns.
  8. Improvements to the installation script.
  9. Fixed bugs in the handling of ClinVar UTF8 encoded strings.
  10. Upgraded the gene_summary and gene_detailed tables to version 75 of Ensembl.
  11. Added support for the MPI Mouse Phenotype database via the mam_phenotype_id column in the gene_summary table.
  12. Enhanced security.
  13. Corrected the ESP allele frequencies to be based report _alternate_ allele frequency instead of _minor_ allele frequency.
  14. VEP version support updated (73-75) Support for aa length and bio type in VEP.
  15. The lof_sieve tool support has been extended to VEP annotations.
  16. Added the ccds_id and entrez_id columns to the gene_detailed table.

0.6.6

  1. Added COSMIC mutation information via new cosmic_ids column.

0.6.4 (2014-Jan-03)

  1. New annotation: experimentally validated human enhancers from VISTA.
  2. Installation improvements to enable isolated installations inside of virtual machines and containers without data. Allow data-only upgrades as part of update process.
  3. Fix for gemini query error when --header specified (#241).

0.6.3.2 (2013-Dec-10)

  1. Fixed a bug that caused --gt-filter to no be enforced from query tool unless a GT* column was selected.
  2. Support for ref and alt allele depths provided by FreeBayes.

0.6.3.1 (2013-Nov-19)

  1. Fixed undetected bug preventing the comp_hets tool from functioning.
  2. Added unit tests for the comp_hets tool.

0.6.3 (2013-Nov-7)

  1. Addition permutation testing to the c-alpha test via the --permutations option.
  2. Addition of the --passonly option during loading to filter out all variants with a filter flag set.
  3. Fixed bug with parallel loading using the extended sample table format.
  4. SLURM support added.
  5. Refactor of loading options to remove explosion of xxx-queue options. Now load using --scheduler on --queue.
  6. Refactor of Sample class to handle the expanded samples table.
  7. Addition of --carrier-summary-by-phenotype for summarizing the counts of carriers and non-carriers stratified by the given sample phenotype column.
  8. Added a --nonsynonymous option to the C-alpha test.
  9. Added gemini amend to edit an existing database. For now only handles updating the samples table.
  10. Fixed a bug that prevented variants that overlapped with multiple 1000G variants from having AAF info extracted from 1000G annotations. This is now corrected such that multiple overlaps with 1000G variants are tolerated, yet the logic ensures that the AAF info is extracted for the correct variant.
  11. Fixed installation issues for the GEMINI browser.
  12. Added --show-families option to gemini query.

0.6.2 (2013-Oct-7)

  1. Moved –tped and –json options into the more generic –format option.
  2. Fixed bug in handling missing phenotypes in the sample table.
  3. Fixed –tped output formatting error.
  4. API change: GeminiQuery.run takes an optional list of predicates that a row must pass to be returned.
  5. –sample-filter option added to allow for restricting variants to samples that pass the given sample query.
  6. ethnicity removed as a default PED field.
  7. PED file format extended to allow for extra columns to be added to the samples table under the column named in the header.
  8. The autosomal_recessive and autosomal_dominant tools now warn, but allow for variants to be detected in the absence of known parent/child relationships.

0.6.1 (2013-Sep-09)

  1. Corrected bug in de_novo tool that was undetected in 0.6.0. Unit tests have been added to head this off in the future. Thanks to Jessica Chong
  2. Added the -d option (minimum sequence depth allowed for a genotype) to the autosmal_recessive and autosmal_dominant tools.
  3. New –tped option in the query tool for reporting variants in TPED format. Thanks to Rory Kirchner.
  4. New –tfam option in the dump tool for reporting sample infor in TFAM format. Thanks to Rory Kirchner.

0.6.0 (2013-Sep-02)

  1. Add the --min-kindreds option to the autosomal_recessive and autosomal_dominant tools to restrict candidate variants/genes to those affecting at least --min-kindreds. Thanks to Jessica Chong
  2. Addition of a new burden tool for gene or region based burden tests. First release supports the C-alpha test. Thanks to Rory Kirchner.
  3. Use of Continuum Analytics Anaconda python package for the automated installer. Thanks to Brad Chapman.
  4. Enhancements to the annotate tool allowing one to create new database columns from values in custom BED+ annotation files. Thanks to Jessica Chong and Graham Ritchie.
  5. Addition of the --column, --filter, and --json options to the region tool.
  6. Improvements to unit tests.
  7. Allow alternate sample delimiters in the query tool via the --sample-delim option. Thanks to Jessica Chong.
  8. Provide a REST-like interface to the gemini browser. In support of future visualization tools.
  9. Allow the query tool to report results in JSON format via the --json option.
  10. Various minor improvements and bug fixes.

0.5.0b (2013-Jul-23)

  1. Tolerate either -9 or 0 for unknown parent or affected status in PED files.

  2. Refine the rules for inheritance and parental affected status for autosomal dominant inheritance models.

  3. The autosomal_dominant, autosomal_recessive, and de_novo mutation tools have received the following improvements.

    • improved speed (especially when there are multiple families)
    • by default, all columns in the variant table are reported and no conditions are placed on the returned variants. That is, as long as the variant meets the inheritance model, it will be reported.
    • the addition of a --columns option allowing one to override the above default behavior and report a subset of columns.
    • the addition of a --filter option allowing one to override the above default behavior and filter reported variants based on specific criteria.

4. The default minimum aligned sequencing depth for each variant reported by the de_novo tool is 0. Greater stringency can be applied with the -d option.

0.4.0b (2013-Jun-12)

  1. Added new gt_ref_depths, gt_alt_depths, and gt_quals columns.
  2. Added a new --show-samples option to the query module to display samples with alternate allele genotypes.
  3. Improvements and bug fixes for installation.

0.3.0b

  1. Improved speed for adding custom annotations.
  2. Added GERP conserved elements.
  3. Optionally addition of GERP conservation scores at base pair resolution.
  4. Move annotation files to Amazon S3.
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