research Forensic DNA Phenotyping
Forensic DNA Phenotyping accurately predicts physical traits and is used in investigations, but needs more diverse population data for confirmation.
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180-210 / 1000+ results research Neonatal screening in Sweden and disease-causing variants in phenylketonuria, galactosaemia and biotinidase deficiency
The Swedish neonatal screening program effectively detects PKU, galactosaemia, and biotinidase deficiency with low false positives.
research Evaluation of hair follicles as a surrogate tissue for pharmacodynamics response in xenograft tumors
Hair follicles can be used to quickly assess drug effects in cancer treatment.
research Mixing the Old with the New: Drug Repurposing for Immune Deficiency in the Era of Precision Medicine and Pediatric Genomics
Using old drugs for new uses can help treat rare immune deficiencies.
research Challenges associated with the identification of germline variants on myeloid malignancy genomic profiling—a Singaporean experience
Genomic profiling for myeloid cancers can find important inherited mutations, but it's challenging when these mutations aren't related to the patient's symptoms.
research Forensic DNA phenotyping: A promising tool to predict human appearance for forensic purposes
Forensic DNA phenotyping can predict physical traits from DNA but faces challenges in knowledge and ethics.
research 129 Utilizing Polygenic score in predicting the disease activity and arthritis in psoriasis patients
Polygenic Score can help predict severe psoriasis and psoriatic arthritis.
research Enhancing diagnostic yield of monogenic diabetes through phenotypic and molecular reanalysis of 128 individuals with young onset hyperglycemia: highlighting the significance of accurate case characterization
Combining genetic and physical trait analysis improves diagnosis accuracy for monogenic diabetes.
research A State-of-the-Art Overview on (Epi)Genomics and Personalized Skin Rejuvenating Strategies
Personalized skin rejuvenation using genomics shows promise but needs more research.
research Phenotypic heterogeneity in human genetic diseases: ultrasensitivity-mediated threshold effects as a unifying molecular mechanism
Different people show different symptoms for genetic diseases because of how sensitive their bodies are to small changes in important factors.
research A regulatory perspective on pharmacokinetic/pharmacodynamic modelling
The document concludes that PK/PD modeling is important for determining the safe and effective dosages of drugs.
research Past, Present and Future Perspectives of Forensic Genetics
Forensic genetics can now predict physical traits and lifestyle habits, with future advancements expected from new technologies.
research Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: Oral Presentations
NIPT can help detect potential maternal cancer, and GIPXplore can identify immune diseases in pregnancies.
research Impact of Clinical Response on Different Approved Doses in Japan and the United States
Different drug doses approved in Japan and the U.S. are not mainly due to different clinical responses, and ethnic factors should be considered in setting drug doses.
research Complex genetic dependencies among growth and neurological phenotypes in healthy children: Towards deciphering developmental mechanisms
Genetic factors influence growth and brain development in children.
research The Pharmacology of Regenerative Medicine
Regenerative pharmacology, which combines drugs with regenerative medicine, shows promise for repairing damaged body parts and needs more interdisciplinary research.
research Recent advances in Forensic DNA Phenotyping of appearance, ancestry and age
Forensic DNA Phenotyping can now better predict appearance, ancestry, and age from DNA, but more research is needed for precise police use.
research CSI on steroids
Forensic DNA phenotyping can help generate new leads in cold cases but faces accuracy, legal, and acceptance challenges.
research MendelVar: gene prioritization at GWAS loci using phenotypic enrichment of Mendelian disease genes
MendelVar is a tool that helps identify important genes by combining GWAS data with Mendelian disease information.
research Análise dos níveis de metilação e de polimorfismos genéticos dos genes GSTP1, MGMT, VDR e AR em pacientes com câncer de próstata
Certain gene combinations may affect prostate cancer risk, and GSTP1 methylation is linked to tumor aggressiveness.
research Comprehension Testing for OTC Drug Labels: Goals, Methods, Target Population, and Testing Environment
The paper concludes that drug labels should be clear for all, especially for those with low literacy, and suggests aiming for high comprehension test passing rates with diverse test populations.
research High-content drug screening for rare diseases
High-content screening is useful for finding new treatments for rare diseases and has led to FDA-approved drugs.
research Primary Generalized Glucocorticoid Resistance and Hypersensitivity
The conclusion is that genetic changes in the glucocorticoid receptor can lead to conditions affecting stress response, immunity, and metabolism, requiring personalized treatment.
research Detection of mutations in the CYP21A2 gene: genotype-phenotype correlation in Slovenian couples with conceiving problems
Genetic screening can help diagnose and manage infertility in Slovenian couples.
research Forensic DNA phenotyping: the need for proportionate regulation and judicial clarity in law enforcement
Unified regulations and ethical guidelines are needed for fair use of forensic DNA phenotyping.
research COVID-19: Understanding Inter-Individual Variability and Implications for Precision Medicine
The conclusion is that individual differences in COVID-19 severity are influenced by factors like age, sex, race, and genetics, which are important for personalized medicine.
research Genetic Hair Disorders: A Review
The conclusion is that genetic testing is important for diagnosing and treating various genetic hair disorders.
research Genotype score associated with the risk of androgenetic alopecia.
research Abstract 4350: Pharmacodynamic biomarkers: Evaluation of oncology drug target engagement in human plucked scalp and beard hair
Plucked hair can effectively monitor drug effects in cancer treatment.
research Polymorphism of genes in patients with new coronavirus infection COVID-19
Genetic differences affect COVID-19 severity and treatment effectiveness.