Deborah Wood Neklason

Human acrocentric chromosome short arm de novo mutation and recombination

The paper investigates mutation and recombination patterns in human acrocentric chromosome short arms using multiple sequencing technologies and a four-generation pedigree.

Diverse mediators of cancer predisposition uncovered by germline whole genome sequencing of unexplained familial cancers

The paper identifies polygenic risk factors and rare variants in unexplained familial cancers using whole genome sequencing and family history data.

A family portrait of the genomic factors shaping tandem repeat mutagenesis

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.

AVITI sequencing of a four-generation CEPH/Utah pedigree confirms low mutation rates at homopolymer loci despite their low sequence complexity

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.

Colibactin-associated mutations in the human colon appear to reflect anatomy and early exposure, not oncogenesis

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 Platinum Pedigree: A long-read benchmark for genetic variants

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.

A familial, telomere-to-telomere reference for human de novo mutation and recombination from a four-generation pedigree

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.

Exome Sequencing for Head and Neck Cancer Predisposition Genes

This study identifies 27 genes associated with head and neck cancer risk through exome sequencing and finds significant interactions between DNA repair gene variants and cigarette smoking.

A novel ribosomal protein S20 variant in a family with unexplained colorectal cancer and polyposis

The paper identifies a novel RPS20 splice donor variant linked to familial CRC and polyposis, showing aberrant splicing and supporting a haploinsufficiency mechanism.

Universal Panel Testing of Pancreatic Cancer Cases for Cancer Predisposition

This study tests pancreatic cancer cases for germline variants in HBOC and CRC genes, finding 8.9% and 10.5% of cases carry variants with potential clinical significance.