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, 11:19, 11 November 2013
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| v0.14 implemented both inherited variant calling and de novo mutation detection from VCF input files. If you have a VCF file with PL or GL fields, you can run polymutt on the VCF file to quickly and conveniently call variants and mutations. | | v0.14 implemented both inherited variant calling and de novo mutation detection from VCF input files. If you have a VCF file with PL or GL fields, you can run polymutt on the VCF file to quickly and conveniently call variants and mutations. |
− | *NOTE: When there is missing data in a trio or family in VCF files, the de novo calling is not reliable and often times is not possible. So these sites should be ignored for de novo mutations. | + | *NOTE: When there is missing data in a trio or family in VCF files, the de novo calling is not reliable and often times is not possible. So these sites should be ignored for '''de novo''' mutations. |
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| v0.13 fixed the bug for generating genotypes when the input is a VCF file and the ped file contains only a single nuclear family. Like unrelated samples (e.g. [[http://gatkforums.broadinstitute.org/discussion/1186/best-practice-variant-detection-with-the-gatk-v4-for-release-2-0 GATK]] recommends at least 30 samples), it is also desirable to use more families or mixture of families and unrelated samples for polymutt. | | v0.13 fixed the bug for generating genotypes when the input is a VCF file and the ped file contains only a single nuclear family. Like unrelated samples (e.g. [[http://gatkforums.broadinstitute.org/discussion/1186/best-practice-variant-detection-with-the-gatk-v4-for-release-2-0 GATK]] recommends at least 30 samples), it is also desirable to use more families or mixture of families and unrelated samples for polymutt. |