Frontiers in Genetics | Statistical Genetics and Methodology

Original Research

Accepted on 09 Oct 2025

Identification and functional analysis of a novel CSNK2A1 frameshift variant in stillbirth: a case report

in Statistical Genetics and Methodology

Nannan Zhang
Miao Han
Tong Zhao
Xinxin Tang
Zhiwei Wang
Yunqiu Du
Leilei Wang

Frontiers in Genetics

doi 10.3389/fgene.2025.1692704

Original Research

Accepted on 30 Sep 2025

A novel dinucleotide variant at 5' splice sites in the F8 gene causes exon 19 skipping in a Chinese family with hemophilia A

in Statistical Genetics and Methodology

Xunzhao Zhou
Qi Yang
Qiuli Chen
Sheng Yi
Shengkai Wei
Jingsi Luo
Dahua Meng
Zailong Qin
Shujie Zhang

Frontiers in Genetics

doi 10.3389/fgene.2025.1686184

230 views

Original Research

Published on 01 Sep 2025

Mining for gene-environment and gene-gene interactions: parametric and non-parametric tests for detecting variance quantitative trait loci

in Statistical Genetics and Methodology

Wan-Yu Lin

Frontiers in Genetics

doi 10.3389/fgene.2025.1617504

2,158 views

Original Research

Published on 26 Aug 2025

Compound heterozygous missense and intronic variants in B9D1 contribute to a recurrent Meckel syndrome pedigree

in Statistical Genetics and Methodology

Huining Jing
Bocheng Xu
Hao Wang
Shanling Liu
He Wang
Jingqun Mai
Wencong Yao
Zhu Zhang

Frontiers in Genetics

doi 10.3389/fgene.2025.1663455

2,091 views

Original Research

Published on 20 Aug 2025

Unraveling the pathogenicity role of the novel compound heterozygous mutations of MED25 gene in a Chinese patient with BVSYS

in Statistical Genetics and Methodology

Linbing Zou
Ruikang Qiu
Zhijun Dai
Yulei Li
Yunjiao Liao
Yan Zhou

Frontiers in Genetics

doi 10.3389/fgene.2025.1654336

2,404 views

Original Research

Published on 08 Aug 2025

Winner’s curse in rare variant analysis: effect size estimation bias depends on effect direction and the association method used

in Statistical Genetics and Methodology

David Soave
Melisa Hayalioglu
Lei Sun

Frontiers in Genetics

doi 10.3389/fgene.2025.1416673

1,871 views

Correction

Published on 07 Aug 2025

Correction: Association between genetically proxied glucosamine and risk of cancer and non-neoplastic disease: a mendelian randomization study

in Statistical Genetics and Methodology

Yingtong Wu
Yinggang Che
Yong Zhang
Yanlu Xiong
Chen Shu
Jun Jiang
Gaozhi Li
Lin Guo
Tianyun Qiao
Shuwen Li

Frontiers in Genetics

doi 10.3389/fgene.2025.1660021

1,181 views

Original Research

Published on 04 Aug 2025

An interpretable machine learning model for predicting myocardial injury in patients with high cervical spinal cord injury

in Statistical Genetics and Methodology

Jiaqi Li
Bingyu Zhang
Ye Liao
Liqin Wei
Qinfeng Huang
Lijun Lin
Jiaxin Chen
Hui Chen

Frontiers in Genetics

doi 10.3389/fgene.2025.1636065

1,611 views

Editorial

Published on 28 Jul 2025

Editorial: Expanding insights into structure, function, and disorder of genome by the power of artificial intelligence in bioinformatics

in Statistical Genetics and Methodology

Hongqiang Lyu
Yao Li
Sijia Wu
Laiyi Fu
Xiaoping Liang
Erhu Liu

Frontiers in Genetics

doi 10.3389/fgene.2025.1649410

1,036 views

Brief Research Report

Published on 09 Jul 2025

Identification of a PATL2 missense variant (c.877G>T) disrupting canonical splicing and contributing to female infertility

in Statistical Genetics and Methodology

Hongyan Li
Yue Lin
Weixu Ma
Ting Yu
Lingfeng Dong
Yankun Chen
Shuming Fan
Guoqun Luo
Jingwen Zhang
Ge Song

Frontiers in Genetics

doi 10.3389/fgene.2025.1611138

1,130 views

Brief Research Report

Published on 04 Jul 2025

A novel missense variant of HS6ST2 gene in Paganini-Miozzo syndrome with a rare neurodevelopmental and Endocrine phenotypes

in Statistical Genetics and Methodology

Meiling Zhang
Xiao Chang
Xiaoyun Du
Zhen Chen
Xinyue Zhang
Fucheng Cai

Frontiers in Genetics

doi 10.3389/fgene.2025.1515260

1,218 views

Mini Review

Published on 01 Jul 2025

Topologically associating domains of chromatin on single-cell Hi-C data: a survey of bioinformatic tools and applications in the light of artificial intelligence

in Statistical Genetics and Methodology

Hongqiang Lyu
Yao Li
Xinran Chen
Yuan Liu
Erhu Liu
Xiaoliang Cheng

Frontiers in Genetics

doi 10.3389/fgene.2025.1602234

1,669 views

Methods

Published on 25 Jun 2025

Analysis of follow-up data in large biobank cohorts: a review of methodology

in Statistical Genetics and Methodology

Anastassia Kolde
Merli Koitmäe
Meelis Käärik
Märt Möls
Krista Fischer

Frontiers in Genetics

doi 10.3389/fgene.2025.1534726

1,170 views

Original Research

Published on 18 Jun 2025

Role of inflammation-related genes as prognostic biomarkers and mechanistic implications in idiopathic pulmonary fibrosis

in Statistical Genetics and Methodology

Bing Bai
Wenfei Zhao
Fazhan Li
Yang Mi
Pengyuan Zheng

Frontiers in Genetics

doi 10.3389/fgene.2025.1602588

1,882 views

Original Research

Published on 17 Jun 2025

Transcriptomic analysis and machine learning modeling identifies novel biomarkers and genetic characteristics of hypertrophic cardiomyopathy

in Statistical Genetics and Methodology

Feng Zhang
Chunrui Li
Lulu Zhang

Frontiers in Genetics

doi 10.3389/fgene.2025.1596049

2,359 views

Original Research

Published on 10 Jun 2025

Silent but significant: Functional elucidation of a synonymous ATP7B mutation in Wilson’s disease pedigrees

in Statistical Genetics and Methodology

Qi Zhang
Xiaoming Xie
Hairong Li
Yulei Li
Hongyao Huang

Frontiers in Genetics

doi 10.3389/fgene.2025.1604683

1,628 views