Changes to HomozygosityMapper
- HomozygosityMapper will remain in service and we recommend to use this tool for SNP array-based studies.
- User profiles created on www.homozygositymapper.org before 15 Dec 2020 were transferred.
- Due to the changes, old HomozygosityMapper projects cannot be accessed from AutozygosityMapper.
- The old version can still be used at https://www.homozygositymapper.org/.
Sample workflow in AutozygosityMapper
New features in AutozygosityMapper
- Direct transfer to MutationDistiller to identify pathogenic variants (human)
- Real genotypes are saved for NGS and SNP chip genotypes
- Homozygous/autozygous blocks are now calculated using their physical length
- Search for autozygosity (in addition to mere homozygosity)
- Homozygous regions can be exported as VCF file for further analysis
- New human Affymetrix SNP arrays: Axiom_Exome_1A, Axiom_Exome319, Axiom_GW_EAS, Axiom_GW_EUR,
Axiom_GW_HuOrigin, Axiom_GW_LAT, Axiom_GW_PanAFR
- New non-human Affymetrix SNP arrays: Axiom_MouseHD
- Please note that support for SNP arrays in AutozygosityMapper is limited, we recommend using HomozygosityMapper
- New user interfaces
- Direct display of chosen coordinates or genes
- Clear separation between array and NGS data in the upload interface
- Available sample IDs are now shown in the analysis interface
- Email notification for logged-in users after successful upload / analysis
- Automatic retrieval of lost login credentials by email
- Much faster analysis, especially for VCF files
- Mandatory use of https
After the last HomozygosityMapper publication
- Data sharing: auto-completion for user accounts
- Support for SNP arrays in AutozygosityMapper is limited, we recommend using HomozygosityMapper
- Display of homozygosity enrichment/depletion (was only possible for SNP chips and lead to confusion)
- Display of allele frequencies in controls (was only possible for SNP chips and lead to confusion)
- 'Genetic hetereogeneity' analysis mode (slowed the application) - replaced by the new autozygosity mode
- Support for Illumina arrays (temporarily, will be restored soon)
- Adding of new genotypes to existing projects (drastically slowed the application)
- Please contact us if one of these features was important for your work and you want it restored.
- We are working on making genome build GRCh38 available.
- There is currently an issue with Illumina SNP arrays, we are woking on fixing it but recommend
HomozygosityMapper for SNP arrays anyway.
- New feature: explicit search for variants without genotypes in the affected individuals to identify homozygous deletions