Margarita Geleta

The paper introduces GBZ-base and GAF-base, indexed pangenome file formats for efficient subgraph and alignment extraction.

The paper constructs a high-resolution human pangenome structural variant resource, identifies disease-associated SVs, and demonstrates its utility in filtering variants from probands and associating SVs with traits in a large cohort.

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.

The paper analyzes chromosome 22q11.2 haplotypes to show how structural variations in specific regions correlate with microdeletion and inversion risks across populations.

The paper presents the first telomere-to-telomere diploid reference genome of the human embryonic stem cell line H9, revealing genomic features and ancestry.

PCLAI infers continuous genetic ancestry across the genome using a point cloud representation, enabling time-stratified geographic insights from ancient samples.

snputils provides a high-performance Python library for handling genetic variation and population structure data, improving efficiency and integration in genomic research.

The paper uses long-read sequencing to identify pathogenic variants in autism cases, finding three pathogenic mutations and nine candidate structural variants missed by short-read sequencing.

This paper applies variational autoencoders to genomic data to capture population structure, enable dimensionality reduction, and improve data compression across diverse populations.

This paper uses Generative Moment Matching Networks to simulate SNP sequences and introduces training improvements and evaluation metrics.