Stefan H. Lelieveld

This study compares sequence- and structure-based antibody clustering methods on simulated repertoire data, finding structure-based methods identify more multiple-occupancy clusters but have length constraints.

InSilicoSeq 2.0 simulates realistic Illumina-like sequencing reads for various platforms and assay types, including amplicon-based sequencing, and demonstrates its effectiveness with AIRR reads.

The paper integrates healthcare and research exome sequences to identify 28 novel developmental disorder-associated genes using a simulation-based statistical test.

The paper identifies 299 new genes associated with developmental disorders using exome data from 31,058 trios and finds many more likely remain undiscovered.

This study identifies 10 novel candidate genes for intellectual disability through a meta-analysis of de novo mutations from 2,104 trios.