[HTML][HTML] The influence of evolutionary history on human health and disease

ML Benton, A Abraham, AL LaBella, P Abbot… - Nature Reviews …, 2021 - nature.com
Nearly all genetic variants that influence disease risk have human-specific origins; however,
the systems they influence have ancient roots that often trace back to evolutionary events …

The road ahead in genetics and genomics

AL McGuire, S Gabriel, SA Tishkoff, A Wonkam… - Nature Reviews …, 2020 - nature.com
In celebration of the 20th anniversary of Nature Reviews Genetics, we asked 12 leading
researchers to reflect on the key challenges and opportunities faced by the field of genetics …

Whole-genome sequencing reveals a complex African population demographic history and signatures of local adaptation

S Fan, JP Spence, Y Feng, MEB Hansen, J Terhorst… - Cell, 2023 - cell.com
We conduct high coverage (> 30×) whole-genome sequencing of 180 individuals from 12
indigenous African populations. We identify millions of unreported variants, many predicted …

Whole-genome resequencing of wild and domestic sheep identifies genes associated with morphological and agronomic traits

X Li, JI Yang, M Shen, XL Xie, GJ Liu, YX Xu… - Nature …, 2020 - nature.com
Understanding the genetic changes underlying phenotypic variation in sheep (Ovis aries)
may facilitate our efforts towards further improvement. Here, we report the deep …

Overcoming immune evasion in melanoma

K Eddy, S Chen - International journal of molecular sciences, 2020 - mdpi.com
Melanoma is the most aggressive and dangerous form of skin cancer that develops from
transformed melanocytes. It is crucial to identify melanoma at its early stages, in situ, as it is …

Clinical and biological characterization of skin pigmentation diversity and its consequences on UV impact

S Del Bino, C Duval, F Bernerd - International journal of molecular …, 2018 - mdpi.com
Skin color diversity is the most variable and noticeable phenotypic trait in humans resulting
from constitutive pigmentation variability. This paper will review the characterization of skin …

The HIrisPlex-S system for eye, hair and skin colour prediction from DNA: Introduction and forensic developmental validation

L Chaitanya, K Breslin, S Zuñiga, L Wirken… - Forensic Science …, 2018 - Elsevier
Abstract Forensic DNA Phenotyping (FDP), ie the prediction of human externally visible traits
from DNA, has become a fast growing subfield within forensic genetics due to the …

Persistence of mature dendritic cells, TH2A, and Tc2 cells characterize clinically resolved atopic dermatitis under IL-4Rα blockade

C Bangert, K Rindler, T Krausgruber, N Alkon… - Science …, 2021 - science.org
Therapeutic options for autoimmune diseases typically consist of broad and targeted
immunosuppressive agents. However, sustained clinical benefit is rarely achieved, as the …

A genome-wide genetic screen uncovers determinants of human pigmentation

VK Bajpai, T Swigut, J Mohammed, S Naqvi, M Arreola… - Science, 2023 - science.org
Skin color, one of the most diverse human traits, is determined by the quantity, type, and
distribution of melanin. In this study, we leveraged the light-scattering properties of melanin …

A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasia

K Adhikari, J Mendoza-Revilla, A Sohail… - Nature …, 2019 - nature.com
We report a genome-wide association scan in> 6,000 Latin Americans for pigmentation of
skin and eyes. We found eighteen signals of association at twelve genomic regions. These …