Svante Pääbo

Reconstructing human gene regulatory evolution using deep learning

This study uses deep learning to predict cis-regulatory effects of human-specific mutations across 305 tissues, revealing their role in gene expression evolution.

A Method to Analyze Low-Quality Archaic Human Genomes and its Application to the Teshik-Tash 1 Neandertal

The paper develops a computational method to analyze low-quality archaic human genomes and applies it to the Teshik-Tash 1 Neandertal, showing genetic similarity to later Western Eurasian Neandertals.

The evolution of gene regulation in mammalian cerebellum development

This study identifies conserved and diverged gene regulatory networks in mammalian cerebellum development using single-nucleus gene expression and chromatin accessibility data from six species.

A high-coverage genome from a 200,000-year-old Denisovan

This paper presents a second high-quality Denisovan genome from a 200,000-year-old molar, revealing genetic contributions from multiple Denisovan groups and refining the Denisovan genetic lineage.

The origin and molecular evolution of the mammalian liver cell architecture

This study investigates the evolutionary origins and dynamics of liver cell architecture across mammals, revealing conserved zonation and rapid evolutionary turnover in zonated genes.

Longer metaphase and fewer chromosome segregation errors in modern human than Neandertal brain development

This study introduces modern human-specific amino acid substitutions into mice and human brain organoids, showing improved chromosome segregation fidelity in modern humans compared to Neandertals.

The MERS-CoV receptor gene is among COVID-19 risk factors inherited from Neandertals

The paper identifies a Neandertal-derived DPP4 gene variant that increases the risk of severe COVID-19 illness.

A genetic variant protective for COVID-19 is inherited from Neandertals

The paper identifies a Neandertal-derived haplotype that is protective against severe COVID-19, found globally outside Africa.

The major genetic risk factor for severe COVID-19 is inherited from Neandertals

The paper identifies a Neandertal-inherited genomic segment as the major genetic risk factor for severe SARS-CoV-2 infection and hospitalization.

A high-coverage Neandertal genome from Chagyrskaya Cave

The paper reports a high-coverage Neandertal genome from Chagyrskaya Cave, revealing genetic features unique to Neandertals and population structure insights.

Single-cell genomic atlas of great ape cerebral organoids uncovers human-specific features of brain development

This study uses single-cell genomics to compare brain development in humans, chimpanzees, and macaques, identifying human-specific gene regulatory features.

Ancient Fennoscandian genomes reveal origin and spread of Siberian ancestry in Europe

The paper analyzes ancient genomes from Finland and Northwest Russia to show Siberian ancestry in northern Europe dates back 3,500 years and influenced modern Uralic-speaking populations.

\"Ancestralization\" of human pluripotent stem cells by multiplexed precise genome editing

This study shows that inactivating DNA-PKcs in human stem cells increases CRISPR editing efficiency, enabling up to 79% of chromosomes to have intended substitutions when targeting a single site.

Long-term balancing selection in LAD1 maintains a missense trans-species polymorphism in humans, chimpanzees and bonobos