Tag: platypus

Genetic and chemotherapeutic influences on germline hypermutation

DNM filtering in 100,000 Genomes Project We analysed DNMs called in 13,949 parent–offspring trios from 12,609 families from the rare disease programme of the 100,000 Genomes Project. The rare disease cohort includes individuals with a wide array of diseases, including neurodevelopmental disorders, cardiovascular disorders, renal and urinary tract disorders, ophthalmological…

Continue Reading Genetic and chemotherapeutic influences on germline hypermutation

Pangenome-based genome inference allows efficient and accurate genotyping across a wide spectrum of variant classes

Sequencing data We used publicly available sequencing data from the GIAB consortium45, 1000 Genomes Project high-coverage data46 and Human Genome Structural Variation Consortium (HGSVC)4. All datasets include only samples consented for public dissemination of the full genomes. Statistics and reproducibility For generating the assemblies, we used all 14 samples for…

Continue Reading Pangenome-based genome inference allows efficient and accurate genotyping across a wide spectrum of variant classes

A mammalian methylation array for profiling methylation levels at conserved sequences

Designing the mammalian methylation array The CMAPS algorithm is designed to select a set of Illumina Infinium array probes such that for a target set of species many probes are expected to work in each species (see “Methods” section). Array probes are sequences of length 50 bp flanking a target CpG…

Continue Reading A mammalian methylation array for profiling methylation levels at conserved sequences

Beagle 5.2 Imputation Issue, understanding output

Hey everyone, I’m having some trouble with the imputation step in my GBS pipeline. I’m following the FastGBS pipeline basically as written up until this point. Before running Beagle, i’ve performed a filtering step using vcftools (though I get the same error whether or not I do this; I just…

Continue Reading Beagle 5.2 Imputation Issue, understanding output

Sequenced quoll genome a new tool for conservation

European colonists mistakenly labelled quolls as “native cats” when in fact they are among Australia’s last living carnivorous marsupials. Often overshadowed by their better-known cousins the Tasmanian Devils and the extinct Tasmanian Tiger (thylacine), quolls have a 15 million year history in Australia, successfully balancing shifting ecosystems by suppressing prey…

Continue Reading Sequenced quoll genome a new tool for conservation

Platypus

Platypus 0 Hi, I’m super new to WGS and bioinformatics, but I’m a classic software data scientist, so I know enough to be annoying. I’m using Platypus too call variants on 100X WGS via Nebula Genomics. I found an odd series of calls and am not sure if this is…

Continue Reading Platypus