Frontiers in Genetics

Original Research

Published on 27 Sep 2023

Clinical interpretation of cell-based non-invasive prenatal testing for monogenic disorders including repeat expansion disorders: potentials and pitfalls

Line Dahl Jeppesen
Lotte Hatt
Ripudaman Singh
Palle Schelde
Katarina Ravn
Christian Liebst Toft
Maria Bach Laursen
Jakob Hedegaard
Inga Baasch Christensen
Bolette Hestbek Nicolaisen

Frontiers in Genetics

doi 10.3389/fgene.2023.1188472

7,228 views
6 citations

Original Research

Published on 27 Sep 2023

Target-capture full-length double-stranded cDNA long-read sequencing through Nanopore revealed novel intron retention in patient with tuberous sclerosis complex

Hiroki Ura
Sumihito Togi
Yo Niida

Frontiers in Genetics

doi 10.3389/fgene.2023.1256064

4,551 views
5 citations

Original Research

Published on 27 Sep 2023

Epigenome-wide DNA methylation profiling in comparison between pathological and physiological hypertrophy of human cardiomyocytes

Hangchuan Shi
Si Chen
Fanju W. Meng
Deborah J. Ossip
Chen Yan
Dongmei Li

Frontiers in Genetics

doi 10.3389/fgene.2023.1264382

4,565 views
2 citations

Review

Published on 27 Sep 2023

Newly discovered circRNAs encoding proteins: recent progress

Xiaotong Shi
Shiyu Liao
Zhiguo Bi
Jianguo Liu
Hua Li
Chunyang Feng

Frontiers in Genetics

doi 10.3389/fgene.2023.1264606

5,708 views
16 citations

Case Report

Published on 27 Sep 2023

Case report: Noonan syndrome with protein-losing enteropathy

Yang Ou
Jun-Chao Yuan
Yao Zheng
Jin-Man Zhang
Tian He
Zhi Liang
Yi-Kun Zhou

Frontiers in Genetics

doi 10.3389/fgene.2023.1237821

4,923 views
2 citations

Editorial

Published on 27 Sep 2023

Editorial: DNA & RNA methylation: impact on cancer progression

Vaibhav Shukla
Ashish Tyagi

Frontiers in Genetics

doi 10.3389/fgene.2023.1293897

2,628 views

Editorial

Published on 27 Sep 2023

Editorial: Toward a better understanding and application of benefit sharing in genomic and global health research

Aminu Yakubu
Ann M. Mc Cartney
Dominique Sprumont

Frontiers in Genetics

doi 10.3389/fgene.2023.1291181

2,801 views
1 citation

Case Report

Published on 27 Sep 2023

Case report: A case of new mutation in SERPINC1 leading to thrombotic microangiopathy

Bing Li
Xiaohui Zhang
Hailin Lv
Xiaoqing Yang
Yanxia Gao
Zhao Hu
Chengjun Ma

Frontiers in Genetics

doi 10.3389/fgene.2023.1278511

3,821 views

Original Research

Published on 26 Sep 2023

The draft genome of the microscopic Nemertoderma westbladi sheds light on the evolution of Acoelomorpha genomes

Samuel Abalde
Christian Tellgren-Roth
Julia Heintz
Olga Vinnere Pettersson
Ulf Jondelius

Frontiers in Genetics

doi 10.3389/fgene.2023.1244493

5,215 views
11 citations

Original Research

Published on 26 Sep 2023

Helicobacter zhangjianzhongii sp. nov., isolated from dog feces

Hairui Wang
Yixin Gu
Guilan Zhou
Xiaoli Chen
Xin Zhang
Zhujun Shao
Maojun Zhang

Frontiers in Genetics

doi 10.3389/fgene.2023.1240581

3,164 views
1 citation

Original Research

Published on 26 Sep 2023

Persistent homology analysis of type 2 diabetes genome-wide association studies in protein–protein interaction networks

Euijun Song

Frontiers in Genetics

doi 10.3389/fgene.2023.1270185

6,350 views
5 citations

Brief Research Report

Published on 25 Sep 2023

Human SHQ1 variants R335C and A426V lead to severe ribosome biogenesis defects when expressed in yeast

Ismaël Alidou-D’Anjou
Aniket Patel
Sophie Sleiman
François Dragon

Frontiers in Genetics

doi 10.3389/fgene.2023.1240416

3,862 views
1 citation

Original Research

Published on 25 Sep 2023

The effect of the proportion of Modern European ancestry on grower and sow performance of pigs in smallholder systems in Uganda

Brian Martin Babigumira
Johann Sölkner
Gábor Mészáros
Maria Wurzinger
Christina Pfeiffer
Craig R. G. Lewis
Ben Lukuyu
Emily Ouma
Karen Marshall

Frontiers in Genetics

doi 10.3389/fgene.2023.1123826

2,854 views
1 citation

Editorial

Published on 25 Sep 2023

Editorial: Insights in human and medical genomics: 2022

Jared C. Roach
Maxim B. Freidin

Frontiers in Genetics

doi 10.3389/fgene.2023.1287894

2,263 views
5 citations

Original Research

Published on 22 Sep 2023

Next-generation sequencing improves precision medicine in hearing loss

T. Imizcoz
C. Prieto-Matos
R. Manrique-Huarte
D. Calavia
A. Huarte
P. C. Pruneda
G. R. Ordoñez
E. Cañada-Higueras
A. Patiño-García
G. Alkorta-Aranburu

Frontiers in Genetics

doi 10.3389/fgene.2023.1264899

6,533 views
7 citations

Original Research

Published on 22 Sep 2023

DapBCH: a disease association prediction model Based on Cross-species and Heterogeneous graph embedding

Wanqi Shi
Hailin Feng
Jian Li
Tongcun Liu
Zhe Liu

Frontiers in Genetics

doi 10.3389/fgene.2023.1222346

2,921 views

Methods

Published on 22 Sep 2023

Detection of copy number variations based on a local distance using next-generation sequencing data

Guojun Liu
Hongzhi Yang
Zongzhen He

Frontiers in Genetics

doi 10.3389/fgene.2023.1147761

2,209 views
3 citations

Original Research

Published on 22 Sep 2023

Genetic selection for reduced health treatment costs in Holstein cows: implications from a long-term study

Michael R. Donnelly
Amy R. Hazel
Leslie B. Hansen
Bradley J. Heins

Frontiers in Genetics

doi 10.3389/fgene.2023.1254183

3,101 views
2 citations

Editorial

Published on 22 Sep 2023

Editorial: Using virus specific-signatures during infection to characterize host-pathogen interactions

Paula Luize Camargos Fonseca
Rajarshi Kumar Gaur
Eric Roberto Guimarães Rocha Aguiar

Frontiers in Genetics

doi 10.3389/fgene.2023.1290714

1,964 views

Editorial

Published on 21 Sep 2023

Editorial: Environmental rhythms at the host-microbe interface

John F. Brooks
Elizabeth Heath-Heckman
Zheng Kuang

Frontiers in Genetics

doi 10.3389/fgene.2023.1290552

2,117 views

Technology and Code

Published on 21 Sep 2023

Efficient sequencing data compression and FPGA acceleration based on a two-step framework

Shifu Chen
Yaru Chen
Zhouyang Wang
Wenjian Qin
Jing Zhang
Heera Nand
Jishuai Zhang
Jun Li
Xiaoni Zhang
Xiaoming Liang

Frontiers in Genetics

doi 10.3389/fgene.2023.1260531

5,000 views
9 citations

Editorial

Published on 21 Sep 2023

Editorial: The role of entropy and information in evolution

Samuel A. Cushman

Frontiers in Genetics

doi 10.3389/fgene.2023.1269792

5,550 views
1 citation

Original Research

Published on 21 Sep 2023

Utilizing proficiency testing survey data to create advanced educational content: the virtual crossmatch challenge model

Reut Hod-Dvorai
Mary Carmelle Philogene
Olga Timofeeva
Idoia Gimferrer
Heather Dunckley
Anna Greenshields
Peter Jindra

Frontiers in Genetics

doi 10.3389/fgene.2023.1256498

2,744 views
5 citations

Case Report

Published on 21 Sep 2023

Case Report: Decrypting an interchromosomal insertion associated with Marfan’s syndrome: how optical genome mapping emphasizes the morbid burden of copy-neutral variants

Maria Clara Bonaglia
Eliana Salvo
Manuela Sironi
Sara Bertuzzo
Edoardo Errichiello
Teresa Mattina
Orsetta Zuffardi

Frontiers in Genetics

doi 10.3389/fgene.2023.1244983

4,931 views
9 citations

1,639 Publications

volumes

Clinical interpretation of cell-based non-invasive prenatal testing for monogenic disorders including repeat expansion disorders: potentials and pitfalls

Target-capture full-length double-stranded cDNA long-read sequencing through Nanopore revealed novel intron retention in patient with tuberous sclerosis complex

Epigenome-wide DNA methylation profiling in comparison between pathological and physiological hypertrophy of human cardiomyocytes

Newly discovered circRNAs encoding proteins: recent progress

Case report: Noonan syndrome with protein-losing enteropathy

Editorial: DNA & RNA methylation: impact on cancer progression

Editorial: Toward a better understanding and application of benefit sharing in genomic and global health research

Case report: A case of new mutation in SERPINC1 leading to thrombotic microangiopathy

The draft genome of the microscopic Nemertoderma westbladi sheds light on the evolution of Acoelomorpha genomes

Helicobacter zhangjianzhongii sp. nov., isolated from dog feces

Persistent homology analysis of type 2 diabetes genome-wide association studies in protein–protein interaction networks

Human SHQ1 variants R335C and A426V lead to severe ribosome biogenesis defects when expressed in yeast

The effect of the proportion of Modern European ancestry on grower and sow performance of pigs in smallholder systems in Uganda

Editorial: Insights in human and medical genomics: 2022

Next-generation sequencing improves precision medicine in hearing loss

DapBCH: a disease association prediction model Based on Cross-species and Heterogeneous graph embedding

Detection of copy number variations based on a local distance using next-generation sequencing data

Genetic selection for reduced health treatment costs in Holstein cows: implications from a long-term study

Editorial: Using virus specific-signatures during infection to characterize host-pathogen interactions

Editorial: Environmental rhythms at the host-microbe interface

Efficient sequencing data compression and FPGA acceleration based on a two-step framework

Editorial: The role of entropy and information in evolution

Utilizing proficiency testing survey data to create advanced educational content: the virtual crossmatch challenge model

Case Report: Decrypting an interchromosomal insertion associated with Marfan’s syndrome: how optical genome mapping emphasizes the morbid burden of copy-neutral variants