The Allen Ancient DNA Resource (AADR) a curated compendium of ancient human genomes

S Mallick, A Micco, M Mah, H Ringbauer, I Lazaridis… - Scientific Data, 2024 - nature.com
More than two hundred papers have reported genome-wide data from ancient humans.
While the raw data for the vast majority are fully publicly available testifying to the …

Familial dysautonomia

A González-Duarte, M Cotrina-Vidal… - Clinical Autonomic …, 2023 - Springer
Familial dysautonomia (FD) is an autosomal recessive hereditary sensory and autonomic
neuropathy (HSAN, type 3) expressed at birth with profound sensory loss and early death …

An empirical test of the estimation of historical effective population size using Drosophila melanogaster

I Novo, N Pérez‐Pereira, E Santiago… - Molecular Ecology …, 2023 - Wiley Online Library
The availability of a large number of high‐density markers (SNPs) allows the estimation of
historical effective population size (N e) from linkage disequilibrium between loci. A recent …

Inferring human phenotypes using ancient DNA: from molecules to populations

M Ferrando-Bernal, CM Brand, JA Capra - Current Opinion in Genetics & …, 2025 - Elsevier
The increasing availability of ancient DNA (aDNA) from human groups across space and
time has yielded deep insights into the movements of our species. However, given the …

Social and genetic diversity in first farmers of central Europe

P Gelabert, P Bickle, D Hofmann… - Nature human …, 2024 - nature.com
Abstract The Linearbandkeramik (LBK) Neolithic communities were the first to spread
farming across large parts of Europe. We report genome-wide data for 250 individuals: 178 …

Pervasive findings of directional selection realize the promise of ancient DNA to elucidate human adaptation

A Akbari, AR Barton, S Gazal, Z Li, M Kariminejad… - …, 2024 - pmc.ncbi.nlm.nih.gov
We present a method for detecting evidence of natural selection in ancient DNA time-series
data that leverages an opportunity not utilized in previous scans: testing for a consistent …

Genetic analysis and natural history of Parkinson's disease due to the LRRK2 G2019S variant

MJ Kmiecik, S Micheletti, D Coker, K Heilbron, J Shi… - Brain, 2024 - academic.oup.com
Abstract The LRRK2 G2019S variant is the most common cause of monogenic Parkinson's
disease (PD); however, questions remain regarding the penetrance, clinical phenotype and …

Genome wide association study and genomic risk prediction of age related macular degeneration in Israel

M Grunin, D Triffon, G Beykin, E Rahmani… - Scientific Reports, 2024 - nature.com
The risk of developing age-related macular degeneration (AMD) is influenced by genetic
background. In 2016, the International AMD Genomics Consortium (IAMDGC) identified 52 …

A pathogenic variant in the uncharacterized RNF212B gene results in severe aneuploidy male infertility and repeated IVF failure

M Gershoni, T Braun, R Hauser, S Barda… - Human Genetics and …, 2023 - cell.com
Quantitative and qualitative spermatogenic impairments are major causes of men's infertility.
Although in vitro fertilization (IVF) is effective, some couples persistently fail to conceive. To …

Notes toward a Demographic History of the Jews

S DellaPergola - Genealogy, 2023 - mdpi.com
As an essential prerequisite to the genealogical study of Jews, some elements of Jewish
demographic history are provided in a long-term transnational perspective. Data and …