@@ -298,9 +298,9 @@ alleles and were added by the Aldy authors. These alleles do not exist in the so
298298VCF support
299299-----------
300300
301- The output will be a VCF file if the output file extension is `.vcf `.
301+ The output will be a VCF file if the output file extension is `` .vcf ` `.
302302Aldy will report a VCF sample for each potential solution and the appropriate genotypes.
303- Aldy will also output tags `MA ` and `MI ` for major and minor solutions.
303+ Aldy will also output tags `` MA `` and `` MI ` ` for major and minor solutions.
304304
305305 **Note: ** VCF is not an optimal format for star-allele reporting. Unless you really need it,
306306 we recommend using Aldy's default format.
@@ -315,7 +315,7 @@ If you encounter any issues with Aldy, please run Aldy with debug parameter:
315315
316316 aldy genotype ... --debug debuginfo
317317
318- This will produce `debuginfo.tar.gz ` file that contains the sample and LP model dumps.
318+ This will produce `` debuginfo.tar.gz ` ` file that contains the sample and LP model dumps.
319319Please send us this file, and we will try to resolve the issue.
320320
321321This file contains no private information of any kind except for the phasing information
@@ -336,7 +336,7 @@ Sample datasets are also available for download. They include:
336336The expected results are:
337337
338338============= ===================== ================ ================= ============ ==============
339- Gene (`-g `) HG00463 NA19790 NA24027 NA10856 NA10860
339+ Gene (`` g ``) HG00463 NA19790 NA24027 NA10856 NA10860
340340============= ===================== ================ ================= ============ ==============
341341*CYP2D6 * \* 36+\* 10/\* 36+\* 10 \* 1/\* 78+\* 2 \* 6/\* 2+\* 2 \* 1/\* 5 \* 1/\* 4+\* 4
342342*CYP2A6 * \* 1/\* 1 \* 1/\* 1 \* 1/\* 35 \* 1/\* 1
@@ -442,13 +442,17 @@ Commands:
442442
443443 You can specify a gene name (e.g. ``aldy query CYP2D6 ``) or an allele (e.g. ``aldy query 'CYP2D6*121' `` or ``aldy q 'CYP2D6*4C' ``).
444444
445+ See below (``genotype `` section) for additional options.
446+
445447* ``profile [FILE] ``
446448
447449 Generate a copy-number profile for a custom sequencing panel and
448450 print it on the standard output.
449451 ``FILE `` is a SAM/BAM sample that is known to have two copies of the gene of interest
450452 (without any fusions or copy number alterations).
451453
454+ See below (``genotype `` section) for additional options.
455+
452456* ``genotype ``
453457
454458 Genotype a sequencing sample. Arguments:
@@ -555,6 +559,7 @@ alleles and were added by the Aldy authors. These alleles do not exist in the so
555559 can be accurately called only when the copy number detection is enabled
556560 (i.e., they cannot be called in WES mode)
557561 - Detection of the non-functional *CYP2D7 * intron 1 retention is spotty
562+ - *CYP2D6 *\* 4 is sometimes miscalled as *CYP2D6 *\* 139 (see **Issues ** below; track this issue here: #50).
558563 * - *CYP2A6 *
559564 - PharmVar v6.2.14
560565 - ✅
@@ -579,7 +584,7 @@ alleles and were added by the Aldy authors. These alleles do not exist in the so
579584 * - *CYP2C19 *
580585 - PharmVar v6.2.14
581586 - ✅
582- -
587+ - \* 1/ \* 38 are interchangeable in VCF mode with hg19.
583588 * - *CYP2C8 *
584589 - PharmVar v6.2.14
585590 - ✅
@@ -627,7 +632,7 @@ alleles and were added by the Aldy authors. These alleles do not exist in the so
627632 * - *CYP3A7 *
628633 - PharmVar v5.2.3
629634 - ✅
630- -
635+ - \* 1/ \* 2 are interchangeable in VCF mode with hg19.
631636 * - *CYP4F2 *
632637 - PharmVar v6.2.14
633638 - ✅
@@ -715,21 +720,21 @@ Change log
715720 - "ALDY" alleles renamed to "X" alleles
716721 - CPIC functionality reporting
717722 - indelPost version upgrade
718- - Support for calling non-database novel variants (`--param novel=True `)
723+ - Support for calling non-database novel variants (`` --param novel=True ` `)
719724
720725- Aldy v4.7 (Nov 2024)
721- - Support for _ABCG2_, _CACNA1S_ and _RYR1_
722- - Database updates (with major _UGT1A1_ update)
726+ - Support for * ABCG2 *, * CACNA1S * and * RYR1 *
727+ - Database updates (with major * UGT1A1 * update)
723728 - Various fixes
724729
725730- Aldy v4.6 (May 2024)
726- - PharmVar 6.1.2 updates (including _NAT2_ PharmVar update)
731+ - PharmVar 6.1.2 updates (including * NAT2 * PharmVar update)
727732 - Support for custom structural events (partial deletions)
728733 - Various bug fixes
729734
730735- Aldy v4.5 (Nov 2023)
731- - Add `min_avg_coverage ` parameter
732- - Add `vcf_sample_idx ` parameter for selecting VCF sample in multi-sample VCF
736+ - Add `` min_avg_coverage ` ` parameter
737+ - Add `` vcf_sample_idx ` ` parameter for selecting VCF sample in multi-sample VCF
733738 - Database cleanup
734739 - Various bug fixes
735740
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