4.6 Article

Pathogenic Variants Associated with Rare Monogenic Diseases Established in Ancient Neanderthal and Denisovan Genome-Wide Data

Related references

Note: Only part of the references are listed.
Article Multidisciplinary Sciences

Age of the oldest known Homo sapiens from eastern Africa

Celine M. Vidal et al.

Summary: This article reports new dating evidence that pushes back the age of the oldest modern human fossils in eastern Africa to before 200,000 years ago. The study also challenges previous arguments about the stratigraphic relationships and tephra correlations and provides new evidence for the minimum age of the fossils.

NATURE (2022)

Review Genetics & Heredity

Insights on variant analysis in silico tools for pathogenicity prediction

Felipe Antonio de Oliveira Garcia et al.

Summary: Molecular biology is a rapidly advancing science, but the interpretation of genetic variants remains a challenge. This article presents a review of international protocols that utilize in silico pathogenicity prediction tools and evaluates their efficiency.

FRONTIERS IN GENETICS (2022)

Article Multidisciplinary Sciences

Spatio-temporal dynamics of pathogenic variants associated with monogenic disorders reconstructed with ancient DNA

Draga Toncheva et al.

Summary: The genetic disease burden in ancient communities has not been thoroughly evaluated. Through analyzing 2729 ancient genomes, this study identifies several pathogenic variants associated with monogenic diseases, with some variants showing fluctuating frequencies over the past 10000 years and others maintaining high frequency levels. The geographic distribution and age of the variants suggest multiple independent origins.

PLOS ONE (2022)

Article Multidisciplinary Sciences

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

Felipe Mora-Bermudez et al.

Summary: Since the separation of modern humans from Neanderthals, around 100 amino acid substitutions have spread to almost all modern humans. Research has shown that certain modern human-specific amino acid substitutions can improve the accuracy of chromosome segregation in stem cells of the developing neocortex.

SCIENCE ADVANCES (2022)

Article Multidisciplinary Sciences

Human TKTL1 implies greater neurogenesis in frontal neocortex of modern humans than Neanderthals

Anneline Pinson et al.

Summary: This study found that the modern human variant hTKTL1, but not the Neanderthal variant, can increase the abundance of bRG without affecting bIPs, thereby affecting the generation of neocortical neurons. This indicates differences in neocortical neurogenesis between modern humans and Neanderthals.

SCIENCE (2022)

Article Multidisciplinary Sciences

Last Interglacial Iberian Neandertals as fisher-hunter-gatherers

J. Zilhao et al.

SCIENCE (2020)

Article Multidisciplinary Sciences

The mutational constraint spectrum quantified from variation in 141,456 humans

Konrad J. Karczewski et al.

NATURE (2020)

Article Multidisciplinary Sciences

A high-coverage Neandertal genome from Chagyrskaya Cave

Fabrizio Mafessoni et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2020)

Article Multidisciplinary Sciences

Living on the edge: Was demographic weakness the cause of Neanderthal demise?

Anna Degioanni et al.

PLOS ONE (2019)

Article Biochemical Research Methods

VarSome: the human genomic variant search engine

Christos Kopanos et al.

BIOINFORMATICS (2019)

Article Biochemistry & Molecular Biology

Neandertal Introgression Sheds Light on Modern Human Endocranial Globularity

Philipp Gunz et al.

CURRENT BIOLOGY (2019)

Article Biochemistry & Molecular Biology

ClinVar: improving access to variant interpretations and supporting evidence

Melissa J. Landrum et al.

NUCLEIC ACIDS RESEARCH (2018)

Article Biochemistry & Molecular Biology

Performance evaluation of pathogenicity-computation methods for missense variants

Jinchen Li et al.

NUCLEIC ACIDS RESEARCH (2018)

Article Multidisciplinary Sciences

The genome of the offspring of a Neanderthal mother and a Denisovan father

Viviane Slon et al.

NATURE (2018)

Article Multidisciplinary Sciences

Reconstructing the genetic history of late Neanderthals

Mateja Hajdinjak et al.

NATURE (2018)

Article Biochemistry & Molecular Biology

DisGeNET: a comprehensive platform integrating information on human disease-associated genes and variants

Janet Pinero et al.

NUCLEIC ACIDS RESEARCH (2017)

Article Evolutionary Biology

Variation and Functional Impact of Neanderthal Ancestry in Western Asia

Recep Ozgur Taskent et al.

GENOME BIOLOGY AND EVOLUTION (2017)

Article Multidisciplinary Sciences

Neanderthal behaviour, diet, and disease inferred from ancient DNA in dental calculus

Laura S. Weyrich et al.

NATURE (2017)

Article Multidisciplinary Sciences

A high-coverage Neandertal genome from Vindija Cave in Croatia

Kay Pruefer et al.

SCIENCE (2017)

Article Biotechnology & Applied Microbiology

Evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines

Rajarshi Ghosh et al.

GENOME BIOLOGY (2017)

Article Genetics & Heredity

Introgression of Neandertal- and Denisovan-like Haplotypes Contributes to Adaptive Variation in Human Toll-like Receptors

Michael Dannemann et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2016)

Article Biochemistry & Molecular Biology

The Combined Landscape of Denisovan and Neanderthal Ancestry in Present-Day Humans

Sriram Sankararaman et al.

CURRENT BIOLOGY (2016)

Article Multidisciplinary Sciences

The Simons Genome Diversity Project: 300 genomes from 142 diverse populations

Swapan Mallick et al.

NATURE (2016)

Article Multidisciplinary Sciences

Genomic analyses inform on migration events during the peopling of Eurasia

Luca Pagani et al.

NATURE (2016)

Article Multidisciplinary Sciences

The phenotypic legacy of admixture between modern humans and Neandertals

Corinne N. Simonti et al.

SCIENCE (2016)

Article Genetics & Heredity

The Strength of Selection against Neanderthal Introgression

Ivan Juric et al.

PLOS GENETICS (2016)

Article Multidisciplinary Sciences

Genome-wide patterns of selection in 230 ancient Eurasians

Iain Mathieson et al.

NATURE (2015)

Article Multidisciplinary Sciences

Massive migration from the steppe was a source for Indo-European languages in Europe

Wolfgang Haak et al.

NATURE (2015)

Article Multidisciplinary Sciences

An early modern human from Romania with a recent Neanderthal ancestor

Qiaomei Fu et al.

NATURE (2015)

Article Multidisciplinary Sciences

The complete genome sequence of a Neanderthal from the Altai Mountains

Kay Pruefer et al.

NATURE (2014)

Article Multidisciplinary Sciences

The timing and spatiotemporal patterning of Neanderthal disappearance

Tom Higham et al.

NATURE (2014)

Article Multidisciplinary Sciences

Resurrecting Surviving Neandertal Lineages from Modern Human Genomes

Benjamin Vernot et al.

SCIENCE (2014)

Article Genetics & Heredity

Higher Levels of Neanderthal Ancestry in East Asians than in Europeans

Jeffrey D. Wall et al.

GENETICS (2013)

Article Biochemistry & Molecular Biology

Neandertal Origin of Genetic Variation at the Cluster of OAS Immunity Genes

Fernando L. Mendez et al.

MOLECULAR BIOLOGY AND EVOLUTION (2013)

Article Biology

New insights into differences in brain organization between Neanderthals and anatomically modern humans

Eiluned Pearce et al.

PROCEEDINGS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES (2013)

Review Biology

Evolutionary medicine: its scope, interest and potential

Stephen C. Stearns

PROCEEDINGS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES (2012)

Article Multidisciplinary Sciences

A High-Coverage Genome Sequence from an Archaic Denisovan Individual

Matthias Meyer et al.

SCIENCE (2012)

Article Genetics & Heredity

The Date of Interbreeding between Neandertals and Modern Humans

Sriram Sankararaman et al.

PLOS GENETICS (2012)

Article Multidisciplinary Sciences

Genetic history of an archaic hominin group from Denisova Cave in Siberia

David Reich et al.

NATURE (2010)

Review Genetics & Heredity

From evolutionary genetics to human immunology: how selection shapes host defence genes

Luis B. Barreiro et al.

NATURE REVIEWS GENETICS (2010)

Article Multidisciplinary Sciences

A Draft Sequence of the Neandertal Genome

Richard E. Green et al.

SCIENCE (2010)