Milinn Kremitzki

460 haplotypes from 230 genomes, selected to maximize common-variant coverage, capture 99.43% of All of Us common small variants and halve structurally unreliable regions and base errors versus HPRC1.

This study uses whole-genome sequencing to analyze 9p deletion and duplication syndromes, identifying key genes and structural variants, and introduces a machine learning model for syndrome prediction.

The paper presents a new chromosome-level genome assembly for the western painted turtle, improving upon a previous fragmented assembly and revealing novel genes and transcript isoforms.

A gapless 3.055 billion bp human genome from HiFi and ultra-long nanopore reads resolves all centromeric arrays and acrocentric p-arms, adding 182 Mbp of new sequence.

This paper completes the linear assembly of human chromosome 8, resolves long-standing gaps, and analyzes the evolutionary history of its centromeric regions across great apes.

The paper presents a chromosome-level genome of surface fish Astyanax mexicanus and uses it to identify genetic factors contributing to trait evolution in cavefish populations.

The paper presents a new domestic cat genome assembly using long-read sequencing, identifies novel variants associated with cancer and dwarfism, and highlights the utility of feline genomics for biomedical research.

The paper presents a gapless, telomere-to-telomere assembly of the human X chromosome using ultra-long-read nanopore sequencing and complementary technologies.

This paper evaluates GRCh38 and de novo haploid assemblies, finding that GRCh38 remains superior for complex genomic regions and coding sequences despite improvements in newer assemblies.