Mario Ventura

The paper identifies evolutionary processes in acrocentric chromosomes of great apes, including repeat enrichment, inversion, and gene family amplification, with implications for human genomic instability.

The paper presents a high-accuracy T2T rhesus macaque genome assembly, identifies subtelomeric repeats as a challenge, and reveals new genomic features and functional elements in these regions.

The paper sequences chromosome 21 centromeres in Down syndrome families, finding extreme size asymmetry in some cases and suggesting it may be a genetic risk factor.

The paper analyzes centromere evolution in lemurs using long-read sequencing, finding rapid sequence turnover and distinct centromeric repeats across species.

The paper identifies a segmental duplication-mediated deletion causing neocentromere formation in orangutans by analyzing structural and epigenetic variation.

The paper identifies three ancient segmental duplications at the human chromosome 2 fusion site, showing their differential distribution due to incomplete lineage sorting and their regulatory impact on gene expression.

The paper studies NUMTs in great ape T2T genomes, showing they recapitulate species tree topology and are enriched in non-functional regions.

This study presents genome assemblies and analyses of macaques to explore genetic variation, population history, and evolutionary differences between species and humans.

CENdetectHOR identifies and analyzes HOR arrays in centromeres across species, revealing structural diversity and variations.

This study uses genomic sequencing to investigate genetic factors contributing to Disorders of Sexual Development in a French Bulldog and links findings to breeding practices.

The paper produces gapless assemblies of ape sex chromosomes for five great apes and a lesser ape, revealing divergence in Y chromosomes and evolutionary dynamics.

ASAP uses PCA and NNLS to reliably estimate ancestry in admixed individuals, even with high missing data, and performs faster than existing tools.

A second complete human centromere set (CHM1) plus 31 nonhuman primate centromeres reveals extensive α-satellite higher-order repeat variation, kinetochore repositioning, and saltatory emergence of new repeats.

The paper analyzes genome-wide SNP data from Southern Italy and neighboring regions to assess historical contacts and genetic affinities across the Adriatic Sea.

The paper presents a comprehensive analysis of segmental duplications in a complete human genome, revealing their distribution, variation, and evolutionary significance.

The paper identifies shared post-admixture adaptation patterns in the Americas by analyzing genomic data from 6,000 admixed individuals, highlighting regions associated with immune response and disease traits.

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 tests reconstruction algorithms for chromosome conformations using fluorescence microscopy and finds they can produce near-perfect reconstructions with sufficient fluorescent colors.

The paper introduces dipSeq, an algorithm for discovering large genomic inversions using pooled clone sequencing, validated on simulated and real data.