Results 201 to 210 of about 96,085 (345)
Annals of Human Genetics, EarlyView.Abstract Introduction An ethics‐guided decision‐making framework was developed for applying pathology‐supported genetic testing, a multifaceted pharmacodiagnostic approach that translates population risk stratification into clinical utility. We introduce this service, supported by the Open Genome Project, which aligns with the beneficence principle in ...
Manie De Klerk +6 more
wiley +1 more source
The N-Gene Model for Evolutionary Games [PDF]
arXivIn this study, we develop a novel evolutionary model that incorporates Mendelian genetics, continuous strategies, and the potential for multiple genes to contribute to a single phenotypic trait. The evolution of altruistic behavior, which confers benefits to others at a cost to the individual, remains a fundamental question in evolutionary biology ...
arxiv
Mendelian Inheritance of Genes Affecting Vitamin-Synthesizing Ability in Saccharomyces
, 1947 Carl C. Lindegren, Gertrude Lindegren
openalex +2 more sources
Quasi-Mendelian Paternal Inheritance of mitochondrial DNA: A notorious artifact, or anticipated mtDNA behavior? [PDF]
, 2019 Sofia Annis +8 more
openalex +1 more source
Genetic Determinants of the Familial Hypercholesterolaemia Phenotype
Annals of Human Genetics, EarlyView.ABSTRACT Individuals with familial hypercholesterolaemia (FH) have severely elevated plasma concentrations of low‐density lipoprotein cholesterol (LDL‐C) from birth and as a consequence have an elevated morbidity and mortality due to the development of coronary heart disease (CHD).
Steve Eric Humphries, Marta Futema
wiley +1 more source
Integrating Chain-of-Thought and Retrieval Augmented Generation Enhances Rare Disease Diagnosis from Clinical Notes [PDF]
arXivBackground: Several studies show that large language models (LLMs) struggle with phenotype-driven gene prioritization for rare diseases. These studies typically use Human Phenotype Ontology (HPO) terms to prompt foundation models like GPT and LLaMA to predict candidate genes.
arxiv
Paediatric Hypotrichosis: A Clinical and Algorithmic Approach to Diagnosis
Australasian Journal of Dermatology, EarlyView.ABSTRACT Paediatric hypotrichosis is the clinical feature of paucity of hair arising congenitally or in early life with the presentation being that of the child whose hair is growing insufficiently. It is a hallmark finding of a diverse group of genodermatoses and sporadic disorders, presenting as either an isolated symptom or in association with ...
Neda So, Leona Yip, David Orchard
wiley +1 more source
How exome sequencing improves the diagnostics and management of men with non‐syndromic infertility
Andrology, EarlyView.Abstract Male infertility affects approximately 17% of all men and represents a complex disorder in which not only semen parameters such as sperm motility, morphology, and number of sperm are highly variable, but also testicular phenotypes range from normal spermatogenesis to complete absence of germ cells.
Birgit Stallmeyer +2 more
wiley +1 more source
Pan‐genome and multi‐parental framework for high‐resolution trait dissection in melon (Cucumis melo)
The Plant Journal, Volume 112, Issue 6, Page 1525-1542, December 2022., 2022 SUMMARY Linking genotype with phenotype is a fundamental goal in biology and requires robust data for both. Recent advances in plant‐genome sequencing have expedited comparisons among multiple‐related individuals. The abundance of structural genomic within‐species variation that has been discovered indicates that a single reference genome cannot ...
Elad Oren +16 more
wiley +1 more source
Data in Brief, 2019 We present data concerning the distribution of scientific publications for human protein-coding genes together with their protein products and genetic relevance.
Matthias Zwick +2 more
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