Challenges in selecting admixture models and marker sets to infer genetic ancestry in a Brazilian admixed population

LM Escher, MS Naslavsky, MO Scliar, YAO Duarte… - Scientific reports, 2022 - nature.com
The inference of genetic ancestry plays an increasingly prominent role in clinical,
population, and forensic genetics studies. Several genotyping strategies and analytical …

The impact of clinical genome sequencing in a global population with suspected rare genetic disease

E Thorpe, T Williams, C Shaw, E Chekalin… - The American Journal of …, 2024 - cell.com
There is mounting evidence of the value of clinical genome sequencing (cGS) in individuals
with suspected rare genetic disease (RGD), but cGS performance and impact on clinical …

Precision medicine: Overview and challenges to clinical implementation

SB Haga - Principles of Gender-Specific Medicine, 2023 - Elsevier
Precision medicine pivots on the integration of patients' individual data including genetic
and genomic data, digital health measures, and social health factors, for the prevention …

Pharmacogenetic differentiation across Latin America

G Suarez-Kurtz, GS de Araujo - Pharmacogenomics, 2022 - Taylor & Francis
Aim: To explore the pharmacogenetic differentiation across Latin American populations,
using the fixation index statistics (F ST). Materials & methods: F ST analyses were applied to …

Pharmacogenomic implications of the differential distribution of CYP3A5 metabolic phenotypes among Latin American populations

G Suarez-Kurtz, CJ Struchiner - Pharmacogenomics, 2024 - Taylor & Francis
This study shows that the distribution of CYP3A5 alleles (* 1,* 3,* 6 and* 7) and genotype-
predicted CYP3A5 phenotypes vary significantly across Latin American cohorts (Brazilians …

Population impact of pharmacogenetic tests in admixed populations across the Americas

G Suarez-Kurtz - The Pharmacogenomics Journal, 2021 - nature.com
The current population of the Americas (~ 1 billion people) is highly heterogeneous as a
result of five centuries of admixture between three major parental populations, namely …

Simplified detection of genetic background admixture using artificial intelligence

R Pauly, F Alexander Feltus - Clinical Genetics, 2024 - Wiley Online Library
Admixture refers to the mixing of genetic ancestry from different populations. Admixture is
important for genomic medicine because it can affect how an individual responds to certain …

Single Nucleotide Variants as Proxies for HLA-A*31:01 in Native American Populations

VC Fernandes, MAM Pretti, LT Tsuneto… - Frontiers in …, 2022 - frontiersin.org
Carbamazepine triggers dermatologic hypersensitivity reactions, associated with specific
human leukocyte antigens (HLAs), especially HLA-B* 15: 02 and HLA-A* 31: 01. Previous …

Genetic Ancestry Inference: from AIMS to WGS application and challenges in admixed population

LM Escher, MS Naslavsky, MO Scliar, YAO Duarte… - 2022 - researchsquare.com
Increasingly, the inference of genetic ancestry plays a prominent role in clinical, population
and forensic genetics studies. Over the last few decades, several genotyping strategies and …