Publications
The third international hackathon for applying insights into large-scale genomic composition to use cases in a wide range of organisms. F1000Res. 2022 ;11:530.
. Single-cell somatic copy number variants in brain using different amplification methods and reference genomes. bioRxiv. 2023 ;.
. Scalable Nanopore sequencing of human genomes provides a comprehensive view of haplotype-resolved variation and methylation. Nat Methods. 2023 ;20(10):1483-1492.
. Scalable Nanopore sequencing of human genomes provides a comprehensive view of haplotype-resolved variation and methylation. bioRxiv. 2023 ;.
. Publisher Correction: Detection of mosaic and population-level structural variants with Sniffles2. Nat Biotechnol. 2024 ;.
. Multiscale analysis of pangenomes enables improved representation of genomic diversity for repetitive and clinically relevant genes. Nat Methods. 2023 ;20(8):1213-1221.
. FixItFelix: improving genomic analysis by fixing reference errors. Genome Biol. 2023 ;24(1):31.
. Detection of mosaic and population-level structural variants with Sniffles2. Nat Biotechnol. 2024 ;.
. A consensus-based ensemble approach to improve transcriptome assembly. BMC Bioinformatics. 2021 ;22(1):513.
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