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 …
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 …
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 …
historical effective population size (N e) from linkage disequilibrium between loci. A recent …
Inferring human phenotypes using ancient DNA: from molecules to populations
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 …
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 …
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
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 …
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
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 …
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
The risk of developing age-related macular degeneration (AMD) is influenced by genetic
background. In 2016, the International AMD Genomics Consortium (IAMDGC) identified 52 …
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 …
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 …
demographic history are provided in a long-term transnational perspective. Data and …