DECIPHER v11.35 released
DECIPHER v11.35 integrates gnomAD mitochondrial DNA variant data across the platform, enabling visualisation of homoplasmic and heteroplasmic frequencies, haplogroup info, and heteroplasmy distribution
Mitochondrial DNA variants observed in gnomAD are now displayed on annotation tabs, in the genome browser, in the protein browser and in patient genotype tables.
On annotation tabs, gnomAD mitochondrial variant homoplasmic and heteroplasmic counts and allele frequencies for each haplogroup are displayed alongside lineage information from MITOMAP. Heteroplasmy distribution and coverage metrics are also available.
gnomAD mitochondrial variants and coverage tracks are now available on the genome browser and are displayed by default when viewing a gene or variant on the mitochondrial DNA. Variants can be coloured by predicted consequence, homoplasmic allele frequency or heteroplasmic allele frequency. Clicking on a variant opens a modal which displays homoplasmic and heteroplasmic counts and allele frequencies.
On the protein browser mtDNA gnomAD missense and LoF tracks are available which display the location of gnomAD variants with these predicted molecular consequences.
gnomAD mitochondrial DNA variants homoplasmic and heteroplasmic allele frequencies are displayed in patient genotype tables.
