Insights in Human and Medical Genomics 2024

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REVIEW

Published on 19 Sep 2025

Beyond single references: pangenome graphs and the future of genomic medicine

Denis M. Nyaga
Roan E. Zaied
Olin K. Silander
Michael A. Black
Justin M. O’Sullivan

doi 10.3389/fgene.2025.1679660

2,715 views

BRIEF RESEARCH REPORT

Published on 29 Aug 2025

MicrobiomeKG: bridging microbiome research and host health through knowledge graphs

Skye L. Goetz
Amy K. Glen
Gwênlyn Glusman

doi 10.3389/fsysb.2025.1544432

1,859 views
2 citations

ORIGINAL RESEARCH

Published on 25 Aug 2025

A retrospective study for the diagnostic value of chromosomal microarray analysis in fetuses with high-risk prenatal indications

Hui Xiao
Junfang Xiao
Huan Zhang
Shuhui Huang
Qing Lu
Huizhen Yuan
Yongyi Zou
Bicheng Yang
Yanqiu Liu

doi 10.3389/fgene.2025.1649253

1,293 views

PERSPECTIVE

Published on 23 Jul 2025

The peruvian genome project: expanding the global pool of genome diversity from South America

Heinner Guio
Cesar Sanchez
Victor Borda
Luis Jaramillo-Valverde
Omar Caceres
Carlos Padilla
Omar Trujillo
Julio A. Poterico
Carolina Silva-Carvalho
13 more
Eduardo Tarazona-Santos

doi 10.3389/fgene.2025.1614021

3,451 views

ORIGINAL RESEARCH

Published on 28 Apr 2025

Integrative analysis of DNA methylation, RNA sequencing, and genomic variants in the cancer genome atlas (TCGA) to predict endometrial cancer recurrence

Jin Hwa Hong
Yung Taek Ouh
Sohyeon Jeong
Yoonji Oh
Hyun Woong Cho
Jae Kwan Lee
Hayeon Kim
Chungyeul Kim
Sanghyun Roh
2 more
Jeong-An Gim

doi 10.3389/fgene.2025.1569122

2,493 views
1 citation

ORIGINAL RESEARCH

Published on 21 Mar 2025

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

Elouise E. Kroon
Yolandi Swart
Chantelle J. Scott
Denise Scholtz
Daniel W. Olivier
Kelebogile E. Moremi
Chantelle Venter
Maxine Waters
Sunday O. Oladejo
5 more
Maritha J. Kotze

doi 10.3389/fgene.2025.1543056

1,667 views

ORIGINAL RESEARCH

Published on 10 Dec 2024

Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance

Amina Kurtovic-Kozaric
Lejla Delalic
Belma Mutapcic
Lejla Comor
Eric Siciliano
Mark J. Kiel

doi 10.3389/fgene.2024.1487608

3,206 views
2 citations

SYSTEMATIC REVIEW

Published on 29 Nov 2024

Consumer-oriented (patient and family) outcomes from nursing in genomics: a scoping review of the literature (2012–2022)

Jordan N. Keels
Joanne Thomas
Kathleen A. Calzone
Laurie Badzek
Sarah Dewell
Vinaya Murthy
Rosie O’Shea
Emma T. Tonkin
Andrew A. Dwyer

doi 10.3389/fgene.2024.1481948

3,015 views
2 citations

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Human and Medical Genomics

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