[PDF][PDF] Detection of trait-associated structural variations using short-read sequencing

S Kosugi, Y Kamatani, K Harada, K Tomizuka… - Cell Genomics, 2023 - cell.com
Genomic structural variation (SV) affects genetic and phenotypic characteristics in diverse
organisms, but the lack of reliable methods to detect SV has hindered genetic analysis. We …

Genotype imputation accuracy and the quality metrics of the minor ancestry in multi-ancestry reference panels

M Shi, C Tanikawa, HM Munter… - Briefings in …, 2024 - academic.oup.com
Large-scale imputation reference panels are currently available and have contributed to
efficient genome-wide association studies through genotype imputation. However, whether …

The association between DNA methylation and human height and a prospective model of DNA methylation-based height prediction

Z Wang, G Fu, G Ma, C Wang, Q Wang, C Lu, L Fu… - Human Genetics, 2024 - Springer
As a vital anthropometric characteristic, human height information not only helps to
understand overall developmental status and genetic risk factors, but is also important for …

Identification of the genetic mechanism that associates L3MBTL3 to multiple sclerosis

A Alcina, M Fedetz, I Vidal-Cobo… - Human molecular …, 2022 - academic.oup.com
Multiple sclerosis (MS) is a complex and demyelinating disease of the central nervous
system. One of the challenges of the post-genome-wide association studies (GWAS) era is …

Genetics of early growth traits

DL Cousminer, RM Freathy - Human Molecular Genetics, 2020 - academic.oup.com
In recent years, genome-wide association studies have shed light on the genetics of early
growth and its links with later-life health outcomes. Large-scale datasets and meta-analyses …

[HTML][HTML] Genomic diversity and signatures of selection in meat and fancy rabbit breeds based on high-density marker data

M Ballan, S Bovo, G Schiavo, M Schiavitto… - Genetics Selection …, 2022 - Springer
Background Domestication of the rabbit (Oryctolagus cuniculus) has led to a multi-purpose
species that includes many breeds and lines with a broad phenotypic diversity, mainly for …

Genetic insights into ossification of the posterior longitudinal ligament of the spine

Y Koike, M Takahata, M Nakajima, N Otomo… - Elife, 2023 - elifesciences.org
Ossification of the posterior longitudinal ligament of the spine (OPLL) is an intractable
disease leading to severe neurological deficits. Its etiology and pathogenesis are primarily …

Populations, traits, and their spatial structure in humans

M Sohail, A Izarraras-Gomez… - Genome Biology and …, 2021 - academic.oup.com
The spatial distribution of genetic variants is jointly determined by geography, past
demographic processes, natural selection, and its interplay with environmental variation. A …

[HTML][HTML] Genetic loci implicated in meta-analysis of body shape in Africans

M Nakabuye, AB Kamiza, O Soremekun… - Nutrition, Metabolism …, 2022 - Elsevier
Background and aims Obesity is one of the leading causes of non-communicable diseases
(NCD). Thus, NCD risk varies in obese individuals based on the location of their fat depots; …

The relationship between common variants in the DPEP1 gene and the susceptibility and clinical severity of osteoarthritis

Z Zhang, Y Mei, M Feng, C Wang… - … Journal of Rheumatic …, 2021 - Wiley Online Library
Aim Previous studies have provided evidence linking the DPEP1 gene to the risk of
osteoarthritis (OA) in Europeans. In this study, we aimed to examine the relationship …