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/.

• 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

• 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