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Molecular diagnostics
Many diseases are caused by genetic variations. Predisposition for a disease can thus be derived from studying one's genome. Hence,…
Variant prediction and annotation
Genetic difference between and within species drive how we evolve, but also what causes malfunctioning of genes and phenotypic differences.…
Publications from Pure
Publications
MAiA
Introduction MAIA is an algorithm to integrate multiple genome assemblies. For example, assemblies originating from: Different runs of a de…
Software
Peacock (2017): Phylogenies Visualization library PEDCA (2017): Ploidy Estimation by Dynamic Coverage Analysis GenomeTools (2017):…
Computational Neurobiology
The immense complexity of the mammalian brain is largely reflected in the underlying molecular signatures of its billions of cells. Brain…
Single-cell omics
The most recent breakthrough in genomics is the ability to measure within single cells. Data from hundred thousands, even millions of cells,…
Functional genomics
The central dogma, first posed by Francis Crick in 1958, tells that DNA encodes for Genes which are translated into Proteins. Over the last…
Aging research
Why do some people reach the age of 100 in a healthy condition with no signs of neurodegeneration while others do not. DBL investigates…