Cody J. Steely

The paper identifies contextual biases in the SegmentNT model, showing how input sequence length and nucleotide position affect predictions and suggests ways to mitigate these biases.

The paper creates a long-read benchmark for genetic variants using a large pedigree, improving variant calling performance and introducing new truth sets for tandem repeats and structural variants.

The paper evaluates how long-read sequencing reduces dark genomic regions in the CHM13 reference genome compared to shorter-read references.

The paper uses a four-generation family to systematically assess de novo mutations and recombination, finding high mutation rates and paternal bias, along with a detailed recombination map.

The paper estimates the genome-wide de novo STR mutation rate in human pedigrees and identifies factors influencing STR mutation dynamics.

The paper identifies MFN2 mutations in ALS patients and shows they impair mitochondrial function and increase TDP-43 levels in zebrafish models.

The paper analyzes mobile element insertions and structural variants in longitudinal breast cancer samples to assess their timing and impact on tumor progression.