A road map for understanding molecular and genetic determinants of osteoporosis

TL Yang, H Shen, A Liu, SS Dong, L Zhang… - Nature Reviews …, 2020 - nature.com
Osteoporosis is a highly prevalent disorder characterized by low bone mineral density and
an increased risk of fracture, termed osteoporotic fracture. Notably, bone mineral density …

Twelve years of GWAS discoveries for osteoporosis and related traits: advances, challenges and applications

X Zhu, W Bai, H Zheng - Bone research, 2021 - nature.com
Osteoporosis is a common skeletal disease, affecting~ 200 million people around the world.
As a complex disease, osteoporosis is influenced by many factors, including diet (eg calcium …

A copy number variation map of the human genome

M Zarrei, JR MacDonald, D Merico… - Nature reviews …, 2015 - nature.com
A major contribution to the genome variability among individuals comes from deletions and
duplications—collectively termed copy number variations (CNVs)—which alter the diploid …

Origins and functional impact of copy number variation in the human genome

DF Conrad, D Pinto, R Redon, L Feuk, O Gokcumen… - Nature, 2010 - nature.com
Structural variations of DNA greater than 1 kilobase in size account for most bases that vary
among human genomes, but are still relatively under-ascertained. Here we use tiling …

A look behind the scenes: the risk and pathogenesis of primary osteoporosis

G Hendrickx, E Boudin, W Van Hul - Nature Reviews Rheumatology, 2015 - nature.com
Osteoporosis is a common disorder, affecting hundreds of millions of people worldwide, and
characterized by decreased bone mineral density and increased fracture risk. Known …

The sponge microbiome project

L Moitinho-Silva, S Nielsen, A Amir, A Gonzalez… - …, 2017 - academic.oup.com
Rhododendron delavayi Franch. is globally famous as an ornamental plant. Its distribution in
southwest China covers several different habitats and environments. However, not much …

Genetics of osteoporosis

SH Ralston, AG Uitterlinden - Endocrine reviews, 2010 - academic.oup.com
Osteoporosis is a common disease with a strong genetic component characterized by
reduced bone mass, defects in the microarchitecture of bone tissue, and an increased risk of …

Massively parallel sequencing: the next big thing in genetic medicine

T Tucker, M Marra, JM Friedman - The American Journal of Human …, 2009 - cell.com
Massively parallel sequencing has reduced the cost and increased the throughput of
genomic sequencing by more than three orders of magnitude, and it seems likely that costs …

Human copy number variation and complex genetic disease

S Girirajan, CD Campbell… - Annual review of genetics, 2011 - annualreviews.org
Copy number variants (CNVs) play an important role in human disease and population
diversity. Advancements in technology have allowed for the analysis of CNVs in thousands …

Copy number polymorphism in plant genomes

A Żmieńko, A Samelak, P Kozłowski… - Theoretical and applied …, 2014 - Springer
Copy number variants (CNVs) are genomic rearrangements resulting from gains or losses of
DNA segments. Typically, the term refers to rearrangements of sequences larger than 1 kb …