Results 21 to 30 of about 6,156,811 (313)

Genetic studies of body mass index yield new insights for obesity biology

open access: yesNature, 2015
Obesity is heritable and predisposes to many diseases. To understand the genetic basis of obesity better, here we conduct a genome-wide association study and Metabochip meta-analysis of body mass index (BMI), a measure commonly used to define obesity and
A. Locke   +481 more
semanticscholar   +1 more source

Identification of mobile genetic elements with geNomad

open access: yesNature Biotechnology, 2023
Identifying and characterizing mobile genetic elements in sequencing data is essential for understanding their diversity, ecology, biotechnological applications and impact on public health.
A. Camargo   +8 more
semanticscholar   +1 more source

A general framework for estimating the relative pathogenicity of human genetic variants

open access: yesNature Genetics, 2014
Current methods for annotating and interpreting human genetic variation tend to exploit a single information type (for example, conservation) and/or are restricted in scope (for example, to missense changes).
M. Kircher   +5 more
semanticscholar   +1 more source

Genetic ties and genetic mixups [PDF]

open access: yesJournal of Medical Ethics, 2003
In a recent case in Great Britain, a couple described as “white” underwent in vitro fertilisation and gave birth to twins described as “black”. In the sense of a fair adjudication of this particular case, serving justice requires a thick description and a sensitive understanding of the relevant facts.
T H, Murray, G E, Kaebnick
openaire   +2 more sources

Genetics of Azoospermia [PDF]

open access: yesInternational Journal of Molecular Sciences, 2021
Azoospermia affects 1% of men, and it can be due to: (i) hypothalamic-pituitary dysfunction, (ii) primary quantitative spermatogenic disturbances, (iii) urogenital duct obstruction. Known genetic factors contribute to all these categories, and genetic testing is part of the routine diagnostic workup of azoospermic men.
Cioppi F., Rosta V., Krausz C.
openaire   +3 more sources

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

open access: yesNucleic Acids Research, 2010
High-throughput sequencing platforms are generating massive amounts of genetic variation data for diverse genomes, but it remains a challenge to pinpoint a small subset of functionally important variants.
Kai Wang, Mingyao Li, H. Hakonarson
semanticscholar   +1 more source

Congenital solitary kidney in autosomal dominant polycystic kidney disease: Where do known genes end and the unknown begin?

open access: yesClinical Case Reports, 2023
Key Clinical Message We present the case of a 41‐year‐old man patient diagnosed with solitary left kidney with few cysts. He has a family history of unilateral renal agenesis (URA) but no for autosomal dominant polycystic kidney disease (ADPKD).
Romina Bucci   +7 more
doaj   +1 more source

Functional mapping and annotation of genetic associations with FUMA

open access: yesNature Communications, 2017
A main challenge in genome-wide association studies (GWAS) is to pinpoint possible causal variants. Results from GWAS typically do not directly translate into causal variants because the majority of hits are in non-coding or intergenic regions, and the ...
Kyoko Watanabe   +3 more
semanticscholar   +1 more source

Music and Genetics

open access: yesNeuroscience & Biobehavioral Reviews, 2023
The first part of this review provides a brief historical background of behavior genetic research and how twin and genotype data can be utilized to study genetic influences on individual differences in human behavior. We then review the field of music genetics, from its emergence to large scale twin studies and the recent, first molecular genetic ...
Wesseldijk, L. ; https://orcid.org/0000-0002-9900-0371   +2 more
openaire   +3 more sources

Biological Insights From 108 Schizophrenia-Associated Genetic Loci

open access: yesNature, 2014
Schizophrenia is a highly heritable disorder. Genetic risk is conferred by a large number of alleles, including common alleles of small effect that might be detected by genome-wide association studies.
S. Ripke   +299 more
semanticscholar   +1 more source

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