Frontiers in Genetics | Human and Medical Genomics

Original Research

Accepted on 03 Apr 2025

Regional Patterns of Genetic Variants in Expanded Carrier Screening: A Next-Generation Sequencing Pilot Study in Fujian Province, China

in Human and Medical Genomics

Danhua Guo
Nani Zhou
Qianqian He
Na Lin
Shuqiong He
Deqin He
Yifang Dai
Ying Li
Xuemei Chen
Hailong Huang

Frontiers in Genetics

doi 10.3389/fgene.2025.1527228

Case Report

Accepted on 03 Apr 2025

Genomic information in the decision-making process for the training of a high-performance Brazilian swimmer: A Case Report

in Human and Medical Genomics

Ricardo Muller Bottura
Daniel Blasioli Dentillo

Frontiers in Genetics

doi 10.3389/fgene.2025.1544178

Review

Published on 02 Apr 2025

Life destiny of erythrocyte in high altitude erythrocytosis: mechanisms underlying the progression from physiological (moderate) to pathological (excessive) high-altitude erythrocytosis

in Human and Medical Genomics

Xiaoying Zhou
Quanwei Bao
Yu Cui
Xiaoxu Li
Chengzhong Yang
Yidong Yang
Yuqi Gao
Dewei Chen
Jian Huang

Frontiers in Genetics

doi 10.3389/fgene.2025.1528935

138 views

Original Research

Accepted on 31 Mar 2025

Effects of Cold Environment Exposure on Female Reproductive Health and Its Regulatory Mechanisms

in Human and Medical Genomics

Hongyi Sun
Qianqian Zhao
Xiaolan Liang
Yalun He
Yangshuo Li
Jin Yu
Ding Jie
Chaoqin Yu

Frontiers in Genetics

doi 10.3389/fgene.2025.1570053

Original Research

Accepted on 28 Mar 2025

Genetic variants in TMPRSS2 influence SARS-CoV-2 infection susceptibility within Mexican Mestizos

in Human and Medical Genomics

Rebeca I Montero
Cinthia Dionicio
Gino Noris
Maricela Piña-Pozas
Carla Santana
ROCIO GOMEZ

Frontiers in Genetics

doi 10.3389/fgene.2025.1558189

Original Research

Published on 21 Mar 2025

Assessment of physician preparedness for implementation of pathology-supported genetic testing: solution-driven post-COVID-19 survey

in Human and Medical Genomics

Elouise E. Kroon
Yolandi Swart
Chantelle J. Scott
Denise Scholtz
Daniel W. Olivier
Kelebogile E. Moremi
Chantelle Venter
Maxine Waters
Sunday O. Oladejo
Craig J. Kinnear

Frontiers in Genetics

doi 10.3389/fgene.2025.1543056

448 views

Original Research

Published on 19 Mar 2025

Functional analysis of a novel FBN1 deep intronic variant causing Marfan syndrome in a Chinese patient

in Human and Medical Genomics

Qingming Wang
Fang Zhang
Xinlong Zhou
Hui Li
Juan Zhao
Haiming Yuan

Frontiers in Genetics

doi 10.3389/fgene.2025.1564824

266 views

Review

Published on 13 Mar 2025

Discovery of therapeutic targets in cardiovascular diseases using high-throughput chromosome conformation capture (Hi-C)

in Human and Medical Genomics

Quan Zheng
Ying Liu
Minghao Guo
Xin Zhang
Qingbin Zhang
Xi-Yong Yu
Zhongxiao Lin

Frontiers in Genetics

doi 10.3389/fgene.2025.1515010

321 views

Editorial

Published on 11 Mar 2025

Editorial: Understanding molecular mechanisms to facilitate the development of biomarkers for therapeutic intervention in gastrointestinal diseases and sepsis

in Human and Medical Genomics

Dipak Kumar Sahoo
Romy M. Heilmann
Ashish Patel

Frontiers in Genetics

doi 10.3389/fgene.2025.1581299

662 views

Case Report

Published on 06 Mar 2025

Case report: Severe arrhythmogenic cardiomyopathy in a young girl with compound heterozygous DSG2 and MYBPC3 variants with a 6-year follow-up

in Human and Medical Genomics

Ryotaro Hashizume
Hiroshi Imai
Hiroyuki Ohashi
Hirofumi Sawada
Noriko Yodoya
Ryuji Okamoto
Kaoru Dohi
Chika Kasai
Takahito Kitajima
Takumi Fujiwara

Frontiers in Genetics

doi 10.3389/fgene.2025.1545561

595 views

Original Research

Published on 06 Mar 2025

Chromosome 1 variants associated with decreased HIV set-point viral load correlate with PRKAB2 expression changes

in Human and Medical Genomics

Riley H. Tough
Paul J. McLaren

Frontiers in Genetics

doi 10.3389/fgene.2025.1551171

415 views

Original Research

Published on 04 Mar 2025

Development and validation of prognostic and diagnostic models utilizing immune checkpoint-related genes in public datasets for clear cell renal cell carcinoma

in Human and Medical Genomics

Bin Zhao
Shi Fu
Yuanlong Shi
Jinye Yang
Chengwei Bi
Libo Yang
Yong Yang
Xin Li
Zhiyu Shi
Yuanpeng Duan

Frontiers in Genetics

doi 10.3389/fgene.2025.1521663

740 views

Original Research

Published on 21 Feb 2025

Exploration of cfDNA landscape in NIPT and clinical utilities of cfDNA based gene expression inference in prenatal diagnostics

in Human and Medical Genomics

Ruo Jia
Jianjiang Zhu
Feng Zhang
Yangbo Sun
Bin Zhang
Yang Du
Hong Qi

Frontiers in Genetics

doi 10.3389/fgene.2025.1527884

614 views

Brief Research Report

Published on 20 Feb 2025

Calculating maternal polygenic risk scores from prenatal screening by cell-free DNA data

in Human and Medical Genomics

Victoria Corey
Mauro Chavez
Layla Qasim
Tevfik U. Dincer
Angela Henry
Salome Bagayan
Sasha Treadup
Mike Mehan
Eileen de Feo
Sung Kim

Frontiers in Genetics

doi 10.3389/fgene.2025.1495604

840 views

Original Research

Published on 17 Feb 2025

Exploration and verification of circulating diagnostic biomarkers in osteoarthritis based on machine learning

in Human and Medical Genomics

Xinyu Wang
Tianyi Liu
Yueyang Sheng
Cheng Qiu
Yanzhuo Zhang
Yanqun Liu
Chengai Wu

Frontiers in Genetics

doi 10.3389/fgene.2025.1513675

658 views

Original Research

Published on 31 Jan 2025

Molecular genetic analysis of Rubinstein–Taybi syndrome in Russian patients

in Human and Medical Genomics

Olga R. Ismagilova
Tagui A. Adyan
Tatiana S. Beskorovainaya
Alexander V. Polyakov

Frontiers in Genetics

doi 10.3389/fgene.2025.1516565

647 views