Daniela C. Soto

The paper identifies human-specific gene expansions linked to brain evolution by analyzing genome sequences and functional models in zebrafish.

This study identifies local genetic adaptation to habitat in wild chimpanzees, particularly to pathogens like malaria, using newly generated exomes.

This paper uses zebrafish to study SRGAP2 duplication, showing its role in microglia and visual system development, with phenotypes resembling human conditions.

The paper integrates CTCF loops, methylome, and transcriptome data from LUHMES neurons to study imprinting dynamics at the 15q11-q13 locus during differentiation.

The paper identifies causal genes at QTLs associated with fear-related behavior using complementation testing and finds six genes, including four with known synaptic roles and one long non-coding RNA.

This study identifies LRRC37B as a human-specific gene that modulates neuronal excitability by interacting with voltage-gated sodium channels in cortical pyramidal neurons.

The paper introduces FixItFelix and a modified GRCh38 reference to improve variant calling and expression analysis in genes with reference errors, showing benefits across multiple sequencing types and populations.

The paper improves a telomere-to-telomere human genome assembly by developing a repeat-aware polishing strategy, fixing 51% of errors and increasing assembly quality.

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.

The T2T-CHM13 reference genome improves read mapping and variant calling across diverse samples, reducing false positives and enabling novel variant discovery.

The paper investigates differential expression of human duplicated genes and finds cis-regulatory divergence contributes to novel expression patterns in recent gene duplicates.

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

The paper presents the whole genome sequences of 11 Mapuche-Huilliche individuals, identifying novel variants and structural events, and highlights their potential relevance to disease susceptibility in admixed populations.