Full characterization of unresolved structural variation through long-read sequencing and optical genome mapping
Source
Scientific reports - ISSN 2045-2322-14:1 (2024) p. 1-12
Visualization and analysis of medically relevant tandem repeats in nanopore sequencing of control cohorts with pathSTR
Source
Genome research - ISSN 1088-9051-34:11 (2024) p. 2074-2080
High-coverage nanopore sequencing of samples from the 1000 Genomes Project to build a comprehensive catalog of human genetic variation
Source
Genome research - ISSN 1088-9051-34:11 (2024) p. 2061-2073
Deciphering distinct genetic risk factors for FTLD-TDP pathological subtypes via whole-genome sequencing
Source
medRxiv- (2024) p. 1-51
Scywalker : scalable end-to-end data analysis workflow for long-read single-cell transcriptome sequencing
Source
Bioinformatics - ISSN 1367-4803-40:9 (2024) p. 1-10