Keith Nykamp

Resolution of the D4Z4 repeat responsible for facioscapulohumeral muscular dystrophy with HiFi sequencing

The paper introduces Kivvi, a tool to genotype D4Z4 repeats using HiFi sequencing, enabling accurate detection of FSHD-related alleles and revealing genetic diversity across populations.

The impact of systematized generation, evaluation, and incorporation of machine learning algorithms for clinical variant classification

The paper develops a machine learning platform to improve variant classification, reducing VUS rates and improving concordance with ClinVar submissions.

Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project

The paper evaluates variant prioritization methods for rare disease diagnosis using data from the Rare Genomes Project, finding that top models identify causal variants in most solved families and uncover potential candidates in unsolved ones.

Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features

The paper identifies SMC3 loss-of-function variants associated with variable growth and developmental features, including some unexpected phenotypes like bone marrow failure and leukemia.

A systematic method for detecting abnormal mRNA splicing and assessing its clinical impact in individuals undergoing genetic testing for hereditary cancer syndromes

SPEER identifies abnormal mRNA splicing and assesses its clinical impact in hereditary cancer syndrome genetic testing, reclassifying variants of uncertain significance.

Elucidating the phenotypic variability associated with the polyT tract and TG repeats in CFTR

The paper assesses the phenotypic risks of CFTR T5 haplotype variants in individuals without the R117H variant, finding associations with disease severity and penetrance.