Thomas A. Sasani

The paper shows that DNA lesions in C. elegans can be inherited and generate multi-allelic mutations across generations.

The paper introduces CheC-PLS, a proximity-labeling technique that uses Nanopore sequencing to decode chromosome organization by identifying methylated bases along long reads, demonstrating its application in budding yeast.

This study identifies genomic factors influencing tandem repeat mutagenesis using long-read sequencing in a large family, finding that de novo mutations are more common at longer, uninterrupted, and heterozygous loci.

The paper uses AVITI sequencing to analyze homopolymer mutation rates in a CEPH/Utah pedigree, confirming lower mutation rates and no significant paternal age effect compared to other STRs.

The paper analyzes mutations in colon crypts to determine if colibactin is linked to early-onset CRC, finding that its association reflects anatomy rather than oncogenesis.

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.

TRGT-denovo accurately detects de novo tandem repeat mutations in family trios, reducing false positives and improving precision compared to genotype-based methods.

The paper identifies epistasis between mutator alleles in mice, showing that combined mutator alleles at two loci increase C>A mutations compared to single mutator alleles.

The paper identifies a natural mutator allele in mice that increases C>A germline mutations by 50% due to a variant of the Mutyh gene.

The paper uses linked-read whole-genome sequencing to identify DNA variants in BXD mice and maps them to phenotypes, enabling systems genetics and precision medicine.

Unfazed detects the parental gamete of origin for de novo mutations using read-based phasing and scales to large datasets.

CaBagE is a method for enriching target DNA regions for long-read sequencing, achieving high coverage and enabling analysis of complex genomic loci in disease contexts.

The paper analyzes de novo mutations in three-generation CEPH families to show variability in mutation rates and identifies post-zygotic mosaicism as a source of de novo mutations.

The paper challenges the textbook view of germline mutations by showing that DNA damage and maternal age significantly contribute to mutation rates, with young fathers contributing more mutations than young mothers.

SV-plaudit enables rapid manual curation of thousands of structural variants through a cloud-based framework with image visualization and collaborative reporting.

Nanopore-only sequencing of GM12878 across 39 MinION flowcells (91.2 Gb) yielded an assembly with NG50 ∼3 Mb; adding 5× ultra-long reads raised NG50 to 6.4 Mbp.