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2 | 2 |
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3 | 3 | ## Unreleased |
4 | 4 |
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| 5 | +## Version 0.5.0 - April 22nd, 2021 |
| 6 | + |
| 7 | +### Fixed |
| 8 | + |
5 | 9 | * Fix for error in `generate_trio_stats_expr` that led to an incorrect untransmitted count. [(#238)](https://github.com/broadinstitute/gnomad_methods/pull/238) |
6 | 10 | * Fix for error in `compute_quantile_bin` that caused incorrect binning when a single score overlapped multiple bins. [(#238)](https://github.com/broadinstitute/gnomad_methods/pull/238) |
7 | | -* Removed assumption of `snv` annotation from `compute_quantile_bin`. [(#238)](https://github.com/broadinstitute/gnomad_methods/pull/238) |
8 | 11 | * Fixed `create_binned_ht` because it produced a "Cannot combine expressions from different source objects error". [(#238)](https://github.com/broadinstitute/gnomad_methods/pull/238) |
| 12 | +* Fixed handling of missing entries (not within a ref block / alt site) when computing `coverage_stats` in `sparse_mt.py` [[#242]](https://github.com/broadinstitute/gnomad_methods/pull/242) |
| 13 | +* Fix for error in `compute_stratified_sample_qc` where `gt_expr` caused error [(#259)](https://github.com/broadinstitute/gnomad_methods/pull/259) |
| 14 | +* Fix for error in `default_lift_data` caused by missing `results` field in `new_locus` [(#270)](https://github.com/broadinstitute/gnomad_methods/pull/270) |
| 15 | +* Fix to dbSNP b154 resource (resources.grch38.reference_data) import to allow for multiple rsIDs per variant [(#345)](https://github.com/broadinstitute/gnomad_methods/pull/345) |
| 16 | +* Fix to `set_female_metrics_to_na` to correctly update chrY metrics to be missing [(#347)](https://github.com/broadinstitute/gnomad_methods/pull/347) |
| 17 | +* Fixed available versions for gnomAD v2 `coverage` and `liftover` resources [(#352)](https://github.com/broadinstitute/gnomad_methods/pull/352) |
| 18 | +* Removed side effect of accessing gnomAD v2 `coverage` and `liftover` exome resources that would edit available versions for other resources [(#352)](https://github.com/broadinstitute/gnomad_methods/pull/352) |
| 19 | +* Use `overwrite` argument for importing a BlockMatrixResource [(#342)](https://github.com/broadinstitute/gnomad_methods/pull/342) |
| 20 | + |
| 21 | +### Changed |
| 22 | + |
| 23 | +* Removed assumption of `snv` annotation from `compute_quantile_bin`. [(#238)](https://github.com/broadinstitute/gnomad_methods/pull/238) |
9 | 24 | * Modified `compute_binned_truth_sample_concordance` to handle additional binning for subsets of variants. [(#240)](https://github.com/broadinstitute/gnomad_methods/pull/240) |
10 | | -* Added constants and functions relevant to VCF export [(#241)](https://github.com/broadinstitute/gnomad_methods/pull/241) |
11 | 25 | * Updated liftover functions to be more generic [(#246)](https://github.com/broadinstitute/gnomad_methods/pull/246) |
12 | 26 | * Changed quality histograms to label histograms calculated on raw and not adj data [(#247)](https://github.com/broadinstitute/gnomad_methods/pull/247) |
13 | 27 | * Updated some VCF export constants [(#249)](https://github.com/broadinstitute/gnomad_methods/pull/249) |
14 | 28 | * Changed default DP threshold to 5 for hemi genotype calls in `annotate_adj` and `get_adj_expr` [(#252)](https://github.com/broadinstitute/gnomad_methods/pull/252) |
15 | | -* Updated coverage resources to version 3.0.1 [[#242]] (https://github.com/broadinstitute/gnomad_methods/pull/242) |
16 | | -* Fixed handling of missing entries (not within a ref block / alt site) when computing `coverage_stats` in `sparse_mt.py` [[#242]](https://github.com/broadinstitute/gnomad_methods/pull/242) |
17 | | -* Fix for error in `compute_stratified_sample_qc` where `gt_expr` caused error [(#259)](https://github.com/broadinstitute/gnomad_methods/pull/259) |
| 29 | +* Updated coverage resources to version 3.0.1 [[#242]](https://github.com/broadinstitute/gnomad_methods/pull/242) |
| 30 | +* Update to `compute_last_ref_block_end`, removing assumption that sparse MatrixTables are keyed only by `locus` by default [(#279)](https://github.com/broadinstitute/gnomad_methods/pull/279) |
| 31 | +* Update `generic_field_check` to have option to show percentage of sites that fail checks. [(#284)](https://github.com/broadinstitute/gnomad_methods/pull/284) |
| 32 | +* Modified `vep_or_lookup_vep` to support the use of different VEP versions [(#282)](https://github.com/broadinstitute/gnomad_methods/pull/282) |
| 33 | +* Modified `create_truth_sample_ht` to add adj annotation information in the returned Table if present in the supplied MatrixTables [(#300)](https://github.com/broadinstitute/gnomad_methods/pull/300) |
| 34 | + |
| 35 | +### Added |
| 36 | + |
| 37 | +* Added constants and functions relevant to VCF export [(#241)](https://github.com/broadinstitute/gnomad_methods/pull/241) |
18 | 38 | * Add reference genome to call of `has_liftover` in `get_liftover_genome` [(#259)](https://github.com/broadinstitute/gnomad_methods/pull/259) |
19 | 39 | * Added fix for MQ calculation in `_get_info_agg_expr`, switched `RAW_MQ` and `MQ_DP` in calculation [(#262)](https://github.com/broadinstitute/gnomad_methods/pull/262) |
20 | 40 | * Add importable method for filtering clinvar to pathogenic sites [(#257)](https://github.com/broadinstitute/gnomad_methods/pull/257) |
21 | | -* Fix for error in `default_lift_data` caused by missing `results` field in `new_locus` [(#270)](https://github.com/broadinstitute/gnomad_methods/pull/270) |
22 | | -* Update to `compute_last_ref_block_end`, removing assumption that sparse MatrixTables are keyed only by `locus` by default [(#279)] (https://github.com/broadinstitute/gnomad_methods/pull/279) |
23 | 41 | * Added common variant QC functions `get_rf_runs` and `get_run_data` to `random_forest.py` [(#278)](https://github.com/broadinstitute/gnomad_methods/pull/278) |
24 | 42 | * Add calculation for the strand odds ratio (SOR) to `get_site_info_expr` and `get_as_info_expr` [(#281)](https://github.com/broadinstitute/gnomad_methods/pull/281) |
25 | | -* Update `generic_field_check` to have option to show percentage of sites that fail checks. [(#284)](https://github.com/broadinstitute/gnomad_methods/pull/284) |
26 | 43 | * Added VEPed context HT to resource files and included support for versioning [(#282)](https://github.com/broadinstitute/gnomad_methods/pull/282) |
27 | | -* Modified `vep_or_lookup_vep` to support the use of different VEP versions [(#282)](https://github.com/broadinstitute/gnomad_methods/pull/282) |
28 | | -* Removed `rep_on_read`; this function is no longer necessary, as MatrixTables/Tables can be repartitioned on read with `_n_partitions` added by this [hail update](https://github.com/hail-is/hail/pull/9887) [(#283)](https://github.com/broadinstitute/gnomad_methods/pull/283) |
29 | 44 | * Added code to generate summary statistics (total number of variants, number of LoF variants, LOFTEE summaries) [(#285)](https://github.com/broadinstitute/gnomad_methods/pull/285) |
30 | | -* Removed `compute_quantile_bin` and added `compute_ranked_bin` as an alternative that provides more even binning. This is now used by `create_binned_ht` instead. [(#288)](https://github.com/broadinstitute/gnomad_methods/pull/288) |
31 | 45 | * Added additional counts to summary statistics (added autosome/sex chromosome counts, allele counts, counts for missense and synomymous variants) [(#289)](https://github.com/broadinstitute/gnomad_methods/pull/289) |
32 | 46 | * Added function, `default_generate_gene_lof_matrix`, to generate gene matrix [(#290)](https://github.com/broadinstitute/gnomad_methods/pull/290) |
33 | 47 | * Added function `default_generate_gene_lof_summary` to summarize gene matrix results [(#292)](https://github.com/broadinstitute/gnomad_methods/pull/292) |
34 | | -* Modified `create_truth_sample_ht` to add adj annotation information in the returned Table if present in the supplied MatrixTables [(#300)](https://github.com/broadinstitute/gnomad_methods/pull/300) |
35 | | -* Fix to dbSNP b154 resource (resources.grch38.reference_data) import to allow for multiple rsIDs per variant [(#345)](https://github.com/broadinstitute/gnomad_methods/pull/345) |
36 | | -* Fix to `set_female_metrics_to_na` to correctly update chrY metrics to be missing [(#347)](https://github.com/broadinstitute/gnomad_methods/pull/347) |
37 | | -* Removed `prefix` parameter from to `make_combo_header_text`, as this was only used to check if samples were from gnomAD [(#348)](https://github.com/broadinstitute/gnomad_methods/pull/348) |
38 | | -* Fixed available versions for gnomAD v2 `coverage` and `liftover` resources [(#352)](https://github.com/broadinstitute/gnomad_methods/pull/352) |
39 | | -* Removed side effect of accessing gnomAD v2 `coverage` and `liftover` exome resources that would edit available versions for other resources [(#352)](https://github.com/broadinstitute/gnomad_methods/pull/352) |
40 | | -* Use `overwrite` argument for importing a BlockMatrixResource [(#342)](https://github.com/broadinstitute/gnomad_methods/pull/342) |
41 | 48 | * Add resource for v3.1.1 release [(#364)](https://github.com/broadinstitute/gnomad_methods/pull/364) |
42 | 49 |
|
| 50 | +### Removed |
| 51 | + |
| 52 | +* Removed `rep_on_read`; this function is no longer necessary, as MatrixTables/Tables can be repartitioned on read with `_n_partitions` added by this [hail update](https://github.com/hail-is/hail/pull/9887) [(#283)](https://github.com/broadinstitute/gnomad_methods/pull/283) |
| 53 | +* Removed `compute_quantile_bin` and added `compute_ranked_bin` as an alternative that provides more even binning. This is now used by `create_binned_ht` instead. [(#288)](https://github.com/broadinstitute/gnomad_methods/pull/288) |
| 54 | +* Removed `prefix` parameter from to `make_combo_header_text`, as this was only used to check if samples were from gnomAD [(#348)](https://github.com/broadinstitute/gnomad_methods/pull/348) |
| 55 | + |
43 | 56 | ## Version 0.4.0 - July 9th, 2020 |
44 | 57 |
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45 | 58 | **Note** gnomAD resources have been moved to a [requester pays bucket](https://cloud.google.com/storage/docs/requester-pays). |
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