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1 |
| -This folder contains resource files and templates to support Homo sapiens GRCh38 reference genome build using UCSC style contig names |
| 1 | +### Version Notes |
| 2 | +This folder contains resource files and templates to support Homo sapiens GRCh38 reference genome build using UCSC style contig names. |
| 3 | + |
| 4 | +* The database and position files DO NOT have identical contig names |
| 5 | + * positions file (positions_387_hg38_ucsc.txt) |
| 6 | + * contig names match the reference genome fasta contig names with "chr" prefixing the primary chromosome contigs |
| 7 | + * database file (databaseV5_hg38_ucsc.ini) |
| 8 | + * contig names DO NOT include "chr" prefix |
| 9 | + * This is because the -add option seems to require that the contig names are single character strings. To support this limitation the "geno" script produces a VCF without chr contig names even though the input targets file and input BAM have contigs with the "chr" prefix |
| 10 | + |
| 11 | +### Changes |
| 12 | +* Genotyping is now executed by bcftools 1.0 or later. Removing the previous limitation that genotyping need to be done with older samtools (v0.19) mpileup and bcftools. |
2 | 13 |
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3 |
| -It also supports the usage of updated variant calling using samtools v1.9 or later |
4 | 14 |
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5 | 15 | ### Issues
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6 | 16 | * The lift-over of the defined 387 variants failed for one variant
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7 | 17 | * Partially deleted in new:
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8 | 18 | * chr1:206760685-206760686
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9 | 19 | * Because the database MUST be 387 variants we need to add one additional variant
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10 |
| - * Added the following for testing (May Update): |
11 |
| - * chr22 32491163 |
| 20 | + * Added the following for testing (Might Update in future): |
| 21 | + * chr22 32491163 |
| 22 | + |
| 23 | +### Requirements (available in user $PATH) |
| 24 | +* java |
| 25 | +* bcftools v1.0 or later |
| 26 | + |
| 27 | +### Tested Enviroment |
| 28 | +* java |
| 29 | + * openjdk version "1.8.0_141" |
| 30 | + * OpenJDK Runtime Environment (build 1.8.0_141-b16) |
| 31 | + * OpenJDK 64-Bit Server VM (build 25.141-b16, mixed mode) |
| 32 | +* bcftools |
| 33 | + * Program: bcftools (Tools for variant calling and manipulating VCFs and BCFs) |
| 34 | + * Version: 1.9 (using htslib 1.9) |
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