Frontiers in Genetics

Brief Research Report

Published on 09 May 2025

Complete defect in PA-PLA1α secretion function leading to autosomal recessive woolly hair and hypotrichosis: insights from a novel compound heterozygous LIPH variant study in a Chinese pedigree

in Genetics of Common and Rare Diseases

Xinyue Zhang
Kexin Guo
Jiawei Liu
Xueting Yang
Rui Zhang
Rongrong Wang
Donglai Ma
Xue Zhang

Frontiers in Genetics

doi 10.3389/fgene.2025.1591409

1,836 views

Original Research

Published on 09 May 2025

A novel synonymous variant in the NF1 gene disrupting splicing contributes to neurofibromatosis pathogenesis

in Statistical Genetics and Methodology

Tao Lin
Zheyan Chen
Biwen Dong
Haojie Pan
Hai Wang
Xianjue Zheng
Kaixin Chen
Yanan Lai
Chenhui Zhang
Ye Dong

Frontiers in Genetics

doi 10.3389/fgene.2025.1572487

3,484 views

Original Research

Published on 09 May 2025

Long-read sequencing reveals absence of 5mC in Ogataea parapolymorpha DL-1 genome and introduces telomere-to-telomere assembly

in Computational Genomics

Andrey Eremin
Alexander Sergeev
Arthur Kopylov
Vladimir Rodin
Daniil Malyshev
Tatiana Panova
Igor Polyakov
Maria Zvereva

Frontiers in Genetics

doi 10.3389/fgene.2025.1574332

2,339 views
1 citation

Original Research

Published on 09 May 2025

Nonmetastatic cell 1 gene polymorphisms are associated with the clinical progression and prognoses of patients with colorectal cancer

in Applied Genetic Epidemiology

Yabin Liu
Tianliang Bai
Zhenxi Zhang
Yanjun Xu
Dexian Kong

Frontiers in Genetics

doi 10.3389/fgene.2025.1485855

1,346 views

Original Research

Published on 08 May 2025

Clinical features and genetic analysis of a family with t(5;9) (p15;p24) balanced translocation leading to Cri-du-chat syndrome in offspring

in Genetics of Common and Rare Diseases

Jing Zhao
Ping Chen
Yijia Ren
Shurong Li
Weiyi Zhang
Yan Li
Fengyu Wang

Frontiers in Genetics

doi 10.3389/fgene.2025.1550937

3,502 views
1 citation

Original Research

Published on 08 May 2025

Genetic dissection of yield and yield-related traits in mungbean based on QTL meta-analysis

in Genomics of Plants and the Phytoecosystem

Binbin Du
Qifei Wang
Song Gao
Fan Yang
Lei Zhang
Xiao Zhang
Dongao Huo
Jia Wu
Xingen Zhang
Fang Li

Frontiers in Genetics

doi 10.3389/fgene.2025.1600979

2,616 views

Original Research

Published on 08 May 2025

Identification of candidate genes harboring pathogenic variants in congenital heart disease and laterality defects in Chinese population

in Genetics of Common and Rare Diseases

Jinxin Wang
Weicheng Chen
Xianghui Huang
Han Gao
Zhiyu Feng
Chaozhong Tan
Quannan Zhuang
Yuan Gao
Shaojie Min
Yuquan Lu

Frontiers in Genetics

doi 10.3389/fgene.2025.1582718

2,875 views
1 citation

Case Report

Published on 06 May 2025

Case Report: A prenatal case with sex discordance between non-invasive prenatal testing and fetal genetic testings due to maternal rare chromosome karyotype

in Cytogenomics

Guoxing Zhong
Jiajia Wu
Zeyan Zhong
Dina Chen
Zhiyang Guan
Shaohui Huang
Jianhong Chen

Frontiers in Genetics

doi 10.3389/fgene.2025.1546579

3,268 views
2 citations

Review

Published on 02 May 2025

Integrative genetic and epigenetic control of skeletal muscle fiber traits in agricultural animals

in Livestock Genomics

Xiaolong Chang
Junwu Ma

Frontiers in Genetics

doi 10.3389/fgene.2025.1566553

3,755 views
1 citation

Original Research

Published on 02 May 2025

Impact of different genomic relationship matrix construction methods on the accuracy of genomic prediction in different species

in Statistical Genetics and Methodology

Shiyi Wang
Yingjia Wei
Dengying Liu
Xiangzhe Zhang
Qishan Wang
Yuchun Pan
Peipei Ma

Frontiers in Genetics

doi 10.3389/fgene.2025.1576248

2,913 views
1 citation

Original Research

Published on 02 May 2025

Validation of a comprehensive long-read sequencing platform for broad clinical genetic diagnosis

in Human and Medical Genomics

Siddhartha Sen
Hillary P. Handler
Alec Victorsen
Zach Flaten
Aidan Ellison
Todd P. Knutson
Sarah A. Munro
Ryan J. Martinez
Charles John Billington
Jennifer J. Laffin

Frontiers in Genetics

doi 10.3389/fgene.2025.1499456

7,005 views
5 citations

Technology and Code

Published on 02 May 2025

TCGADownloadHelper: simplifying TCGA data extraction and preprocessing

in Computational Genomics

Alexandra Anke Baumann
Olaf Wolkenhauer
Markus Wolfien

Frontiers in Genetics

doi 10.3389/fgene.2025.1569290

5,960 views
1 citation

Original Research

Published on 02 May 2025

RNA hybrid-capture next-generation sequencing has high sensitivity in identifying known and less characterized oncogenic and likely oncogenic NTRK fusions in a real-world standard-of-care setting

in Cancer Genetics and Oncogenomics

Zachary D. Wallen
Marni Tierno
Erica Schnettler
Alison Roos
Michelle Green
Kobina Amoah
Rebecca A. Previs
Stephanie Hastings
Sarabjot Pabla
Taylor J. Jensen

Frontiers in Genetics

doi 10.3389/fgene.2025.1550706

15,340 views
1 citation

Review

Published on 01 May 2025

In vitro 3D modeling of colorectal cancer: the pivotal role of the extracellular matrix, stroma and immune modulation

in Cancer Genetics and Oncogenomics

Veroniaina Hanitrarimalala
Zdenka Prgomet
My Hedhammar
Helena Tassidis
Anette Gjörloff Wingren

Frontiers in Genetics

doi 10.3389/fgene.2025.1545017

4,977 views
3 citations

Original Research

Published on 01 May 2025

Development and validation of a polygenic risk score for height in a Greek cohort: Association with blood pressure measurements

in Applied Genetic Epidemiology

Ioanna Panagiota Kalafati
Margaritis Tsifintaris
Maria Dimitriou
Effimia Grigoriou
Panagiotis Moulos
George V. Dedoussis

Frontiers in Genetics

doi 10.3389/fgene.2025.1538975

3,139 views

Original Research

Published on 01 May 2025

Identification of potential crucial genes and mechanisms associated with metabolically unhealthy obesity based on the gene expression profile

in Genetics of Common and Rare Diseases

Qingqing Wang
Silu Wang
Zhanyu Zhuang
Xueting Wu
Hongkun Gao
Tianyi Zhang
Guorong Zou
Xing Ge
Yapeng Liu

Frontiers in Genetics

doi 10.3389/fgene.2025.1540721

2,075 views
1 citation

Original Research

Published on 01 May 2025

Radiomic features and tumor immune microenvironment associated with anaplastic lymphoma kinase-rearranged lung adenocarcinoma and their prognostic value

in Cancer Genetics and Oncogenomics

Ying Han
Wenya Feng
Huaxin Li
Hua Wang
Zhaoxiang Ye

Frontiers in Genetics

doi 10.3389/fgene.2025.1581937

2,414 views
1 citation

Original Research

Published on 30 Apr 2025

Impact of nonsynonymous single nucleotide polymorphisms in PROCR gene on protein stability and thrombotic risk: a molecular dynamic approach

in Computational Genomics

Hytham Ahmed Abuagla
Khalid Mohamed Adam
Mohamed E. Elangeeb
Elsadig Mohamed Ahmed
Elshazali W. Ali
Ali M. Edris
Abubakr Ali Elamin MohamedAhmed
Elmoiz Idris Eltieb
Tarig Babikir Algak Khalid
Bahaeldin K. Elamin

Frontiers in Genetics

doi 10.3389/fgene.2025.1580993

2,276 views

Review

Published on 30 Apr 2025

Leveraging long-read sequencing technologies for pharmacogenomic testing: applications, analytical strategies, challenges, and future perspectives

in Pharmacogenetics and Pharmacogenomics

Alireza Tafazoli
Mahboobeh Hemmati
Mahboobeh Rafigh
Maliheh Alimardani
Faeze Khaghani
Michał Korostyński
Jason H. Karnes

Frontiers in Genetics

doi 10.3389/fgene.2025.1435416

5,481 views
12 citations

Original Research

Published on 30 Apr 2025

High-precision lung cancer subtype diagnosis on imbalanced exosomal data via Exo-LCClassifier

in Computational Genomics

Siyu Zhan
Hao Yu
Shuang Liu
Ke Qin
Lu Guo

Frontiers in Genetics

doi 10.3389/fgene.2025.1583081

2,202 views
1 citation

Original Research

Published on 30 Apr 2025

Applying the algorithm for Proven and young in GWAS Reveals high polygenicity for key traits in Nellore cattle

in Livestock Genomics

Adebisi R. Ogunbawo
Jorge Hidalgo
Henrique A. Mulim
Eula R. Carrara
Henrique T. Ventura
Nadson O. Souza
Daniela Lourenco
Hinayah R. Oliveira

Frontiers in Genetics

doi 10.3389/fgene.2025.1549284

4,037 views
8 citations

Original Research

Published on 30 Apr 2025

Genetic architecture of thermotolerance traits in beef cattle: a novel integration of SNP and breed-of-origin effects

in Livestock Genomics

Gabriel A. Zayas
Camila Santos Rojas
Eduardo E. Rodriguez
Aakilah S. Hernandez
Ashley M. Beard
Fahad Rafiq
Kaitlyn M. Sarlo Davila
Raluca G. Mateescu

Frontiers in Genetics

doi 10.3389/fgene.2025.1576966

3,867 views

Original Research

Published on 29 Apr 2025

Chromosome-level draft genome assembly of Hypomesus nipponensis reveals transposable element expansion reshaping the genome structure

in Livestock Genomics

Chenzhao Zhu
Youyi Kuang
Zhe Li
Fujiang Tang

Frontiers in Genetics

doi 10.3389/fgene.2025.1502681

2,419 views

Original Research

Published on 29 Apr 2025

Constructing ancestral recombination graphs through reinforcement learning

in Computational Genomics

Mélanie Raymond
Marie-Hélène Descary
Cédric Beaulac
Fabrice Larribe

Frontiers in Genetics

doi 10.3389/fgene.2025.1569358

2,692 views

16,617 articles

articles

Complete defect in PA-PLA1α secretion function leading to autosomal recessive woolly hair and hypotrichosis: insights from a novel compound heterozygous LIPH variant study in a Chinese pedigree

A novel synonymous variant in the NF1 gene disrupting splicing contributes to neurofibromatosis pathogenesis

Long-read sequencing reveals absence of 5mC in Ogataea parapolymorpha DL-1 genome and introduces telomere-to-telomere assembly

Nonmetastatic cell 1 gene polymorphisms are associated with the clinical progression and prognoses of patients with colorectal cancer

Clinical features and genetic analysis of a family with t(5;9) (p15;p24) balanced translocation leading to Cri-du-chat syndrome in offspring

Genetic dissection of yield and yield-related traits in mungbean based on QTL meta-analysis

Identification of candidate genes harboring pathogenic variants in congenital heart disease and laterality defects in Chinese population

Case Report: A prenatal case with sex discordance between non-invasive prenatal testing and fetal genetic testings due to maternal rare chromosome karyotype

Integrative genetic and epigenetic control of skeletal muscle fiber traits in agricultural animals

Impact of different genomic relationship matrix construction methods on the accuracy of genomic prediction in different species

Validation of a comprehensive long-read sequencing platform for broad clinical genetic diagnosis

TCGADownloadHelper: simplifying TCGA data extraction and preprocessing

RNA hybrid-capture next-generation sequencing has high sensitivity in identifying known and less characterized oncogenic and likely oncogenic NTRK fusions in a real-world standard-of-care setting

In vitro 3D modeling of colorectal cancer: the pivotal role of the extracellular matrix, stroma and immune modulation

Development and validation of a polygenic risk score for height in a Greek cohort: Association with blood pressure measurements

Identification of potential crucial genes and mechanisms associated with metabolically unhealthy obesity based on the gene expression profile

Radiomic features and tumor immune microenvironment associated with anaplastic lymphoma kinase-rearranged lung adenocarcinoma and their prognostic value

Impact of nonsynonymous single nucleotide polymorphisms in PROCR gene on protein stability and thrombotic risk: a molecular dynamic approach

Leveraging long-read sequencing technologies for pharmacogenomic testing: applications, analytical strategies, challenges, and future perspectives

High-precision lung cancer subtype diagnosis on imbalanced exosomal data via Exo-LCClassifier

Applying the algorithm for Proven and young in GWAS Reveals high polygenicity for key traits in Nellore cattle

Genetic architecture of thermotolerance traits in beef cattle: a novel integration of SNP and breed-of-origin effects

Chromosome-level draft genome assembly of Hypomesus nipponensis reveals transposable element expansion reshaping the genome structure

Constructing ancestral recombination graphs through reinforcement learning