Results 11 to 20 of about 10,524,108 (363)

Using human genetics to understand the disease impacts of testosterone in men and women

open access: yesNature Medicine, 2020
Testosterone supplementation is commonly used for its effects on sexual function, bone health and body composition, yet its effects on disease outcomes are unknown.
K. Ruth   +24 more
semanticscholar   +1 more source

The Genetics of Human Behavior

open access: yesColumbia Undergraduate Science Journal, 2022
Behavioral disorders arise from environmental, lifestyle, and genetic factors. Past studies have shown evidence for the hereditability of several major behavioral neuropsychiatric disorders, such as schizophrenia, depression, and bipolar disorder.
Kim, Katherine, Streid, David
openaire   +2 more sources

Congenital aortic valve stenosis: from pathophysiology to molecular genetics and the need for novel therapeutics

open access: yesFrontiers in Cardiovascular Medicine, 2023
Congenital aortic valve stenosis (AVS) is one of the most common valve anomalies and accounts for 3%–6% of cardiac malformations. As congenital AVS is often progressive, many patients, both children and adults, require transcatheter or surgical ...
Jun Yasuhara   +8 more
doaj   +1 more source

Thousands of Qatari genomes inform human migration history and improve imputation of Arab haplotypes

open access: yesNature Communications, 2021
Arab populations are relatively understudied, especially their genetic architecture and historical relationship with early founders of the ancient Near East.
Rozaimi Mohamad Razali   +10 more
doaj   +1 more source

Human Genetic Research in Pakistan: Challenges and Way forward

open access: yesLife and Science, 2021
The 90s ushered in the era of molecular genetics in Pakistan. Our centuries’ old tradition of consanguineous marriages, resulting in the availability of large, inbred families with inherited disorders, proved to be a goldmine for geneticists, working to ...
Syed Muhammad Imran Majeed   +1 more
doaj   +1 more source

A Global Effort to Define the Human Genetics of Protective Immunity to SARS-CoV-2 Infection

open access: yesCell, 2020
SARS-CoV-2 infection displays immense inter-individual clinical variability, ranging from silent infection to lethal disease. The role of human genetics in determining clinical response to the virus remains unclear.
J. Casanova   +64 more
semanticscholar   +1 more source

Mutation saturation for fitness effects at human CpG sites

open access: yeseLife, 2021
Whole exome sequences have now been collected for millions of humans, with the related goals of identifying pathogenic mutations in patients and establishing reference repositories of data from unaffected individuals.
Ipsita Agarwal, Molly Przeworski
doaj   +1 more source

Opportunistic genomic screening. Recommendations of the European Society of Human Genetics

open access: yesEuropean Journal of Human Genetics, 2020
If genome sequencing is performed in health care, in theory the opportunity arises to take a further look at the data: opportunistic genomic screening (OGS). The European Society of Human Genetics (ESHG) in 2013 recommended that genome analysis should be
G. de Wert   +17 more
semanticscholar   +1 more source

Mendelian randomization suggests a bidirectional, causal relationship between physical inactivity and adiposity

open access: yeseLife, 2022
Physical inactivity and increased sedentary time are associated with excess weight gain in observational studies. However, some longitudinal studies indicate reverse causality where weight gain leads to physical inactivity and increased sedentary time ...
Germán D Carrasquilla   +4 more
doaj   +1 more source

Human genetics and malaria resistance

open access: yesHuman Genetics, 2020
Malaria has been the pre-eminent cause of early mortality in many parts of the world throughout much of the last five thousand years and, as a result, it is the strongest force for selective pressure on the human genome yet described. Around one third of
S. Kariuki, T. Williams
semanticscholar   +1 more source

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