Nicolas Dierckxsens

The paper analyzes chromosome 22q11.2 haplotypes to show how structural variations in specific regions correlate with microdeletion and inversion risks across populations.

NOVOLoci improves genome assembly using Oxford Nanopore reads, achieving high-quality phased assemblies for complex and non-model organisms.

The paper reports the complete mitochondrial genome of an unidentified Oikopleura species, providing a new resource for ecological and mitochondrial studies of appendicularians.

This study reports the first complete mitogenome assembly of Oikopleura dioica, revealing a high proportion of A and T homopolymers.

The paper investigates the mechanisms behind the high incidence of 22q11.2 deletion syndrome by analyzing recombination events and paralogous structures in LCR22 regions.

The paper benchmarks structural variation detection using long reads through a simulated model, finding that combining multiple callers improves recall and precision.

The paper investigates the inter- and intra-species variability of LCR22s in non-human primates and finds that LCR22 expansions are unique to humans.