The large-scale whole-genome sequencing era expedited medical discovery and clinical translation

Deleted Journal, Год журнала: 2025, Номер 2(1), С. 100055 - 100055

Опубликована: Фев. 8, 2025

Язык: Английский

---

Fine-scale biogeographical ancestry inference in Southeast and East Asians via high-efficiency markers and machine learning approaches

Frontiers in Ecology and Evolution, Год журнала: 2025, Номер 13

Опубликована: Апрель 3, 2025

Biogeographical ancestry inference offers valuable clues for forensic cold cases, but limited information is typically obtained from substructured populations within continental East Asian and Southeast groups. This study presents an integrative genomic dataset of 3,461 individuals Asia to elucidate the fine-scale population substructure its role in precision medicine. Six nested panels were developed with increasing ancestry-informative marker (AIM) density (ranging 50 2,000 SNPs) distinguish fine genetic differences between six language groups Sino-Tibetan family. We found that 2000 AIM panel exhibited differentiation efficiency PCA comparable all loci. Additionally, we constructed a classification machine learning model average prediction accuracy 84%, highlighting critical geographical improving accuracy. Furthermore, validated deep method Locator predicting coordinates solely based on information. work highlights power integrating geographic data artificial intelligence refine biogeographical inference, offering more profound insights into structure Asia, significant implications applications.

Язык: Английский

---

Genome-driven Chinese precision medicine: Biobank-scale genomic research as a new paradigm

The Innovation Life, Год журнала: 2025, Номер unknown, С. 100131 - 100131

Опубликована: Янв. 1, 2025

<p>Large-scale genomic resources from biobank sequencing projects are crucial for understanding the interplay between environmental and genetic factors in human disease health traits, as well reconstructing evolutionary history. We summarize recent advances cohorts highlight opportunities non-Eurocentric populations a multidisciplinary perspective. Initiatives like UK100K, All of Us, TOPMed precision medicine programs have shifted research paradigms problem-derived to data-driven approaches, enhancing our architecture diseases Europeans their descendants. However, biases persist, such Han bias Chinese focused on medical anthropological purposes. These contribute global inequalities disparities medicine. Evolutionary studies modern ancient genomes provide new insights into history adaptive trajectories critical mutations. findings underscore importance personal genome tailored ethnolinguistically genetically diverse populations. This strategy is vital assessing burden etiology disease. Our work emphasizes need include underrepresented diversity create comprehensive catalog variations understand biological implications.</p>

Язык: Английский

---

Paleolithic Divergence and Multiple Neolithic Expansions of Ancestral Nomadic Emperor-related Paternal Lineages

Journal of genetics and genomics/Journal of Genetics and Genomics, Год журнала: 2024, Номер unknown

Опубликована: Ноя. 1, 2024

Язык: Английский

---