Results 71 to 80 of about 825,099 (241)

Investigating the genetic architecture of eye colour in a Canadian cohort

iScience, 2022
Summary: Eye color is highly variable in populations with European ancestry, ranging from low to high quantities of melanin in the iris. Polymorphisms in the HERC2/OCA2 locus have the largest effect on eye color in these populations, although other ...
Frida Lona-Durazo, Rohit Thakur, Erola Pairo-Castineira, Karen Funderburk, Tongwu Zhang, Michael A. Kovacs, Jiyeon Choi, Ian J. Jackson, Kevin M. Brown, Esteban J. Parra   +9 more
doaj  

Zebrafish: A Powerful Model for Understanding the Functional Relevance of Noncoding Region Mutations in Human Genetic Diseases

Biomedicines, 2019
Determining aetiology of genetic disorders caused by damaging mutations in protein-coding genes is well established. However, understanding how mutations in the vast stretches of the noncoding genome contribute to genetic abnormalities remains a huge ...
Anita Mann, Shipra Bhatia
doaj   +1 more source

Generation of Dual-Color FISH probes targeting 9p21, Xp21, and 17p13.1 loci as diagnostic markers for some genetic disorders and cancer in Egypt

Journal of Genetic Engineering and Biotechnology
Introduction: The fluorescence in situ hybridization (FISH) is a very important technique, as it can diagnose many genetic disorders and cancers. Molecular cytogenetic analysis (FISH) can diagnose numerical chromosome aberrations, sex chromosomes ...
Amal M. Mohamed, Maha Eid, Ola Eid, Shymaa H Hussein, Wael Mahmoud, Rana Mahrous, Khaled Refaat, Marwa Farid   +7 more
doaj  

Lower genetic diversity in the limpet Patella caerulea on urban coastal structures compared to natural rocky habitats [PDF]

Marine Biology 156 (2009) 2313, 2009
Human-made structures are increasingly found in marine coastal habitats. The aim of the present study was to explore whether urban coastal structures can affect the genetic variation of hard-bottom species. We conducted a population genetic analysis on the limpet Patella caerulea sampled in both natural and artificial habitats along the Adriatic coast.
arxiv  

A Programme for Human Genetics [PDF]

, 1932
J. B. S. Haldane
openalex   +1 more source

Rare Genetic Diseases: Nature's Experiments on Human Development

iScience, 2020
Rare genetic diseases are the result of a continuous forward genetic screen that nature is conducting on humans. Here, we present epistemological and systems biology arguments highlighting the importance of studying these rare genetic diseases.
Chelsea E. Lee, Kaela S. Singleton, Melissa Wallin, Victor Faundez   +3 more
doaj  

Human genetics as an approach to the classification of mental diseases [PDF]

, 1952
Aníbal Silveira
openalex   +1 more source

Genetic Data Governance in Crisis: Policy Recommendations for Safeguarding Privacy and Preventing Discrimination [PDF]

arXiv
Genetic data collection has become ubiquitous today. The ability to meaningfully interpret genetic data has motivated its widespread use, providing crucial insights into human health and ancestry while driving important public health initiatives. Easy access to genetic testing has fueled a rapid expansion of recreational direct-to-consumer offerings ...
arxiv  

Studies in the Genetics of Human Neoplasms: Cancer of the Breast, Based upon 201 Family Histories [PDF]

, 1937
R. P. Martynova
openalex   +1 more source

Modeling and Testing for Joint Association Using a Genetic Random Field Model [PDF]

arXiv, 2013
Substantial progress has been made in identifying single genetic variants predisposing to common complex diseases. Nonetheless, the genetic etiology of human diseases remains largely unknown. Human complex diseases are likely influenced by the joint effect of a large number of genetic variants instead of a single variant. The joint analysis of multiple
arxiv