Peer-reviewed record

Evagene in peer-reviewed research

Independent clinical and genetic research groups have used Evagene to draw pedigrees for published case studies and methods reviews across Marfan syndrome, nephronophthisis, retinitis pigmentosa, and molecular diagnostics. The software is also listed in the U.S. Department of Veterans Affairs Technical Reference Model. Below are the papers and institutions, linked to their original sources.

Peer-reviewed papers

10+

Research institutions

Indexed journals

U.S. government listing

"For the digitalization of pedigrees, different software packages (e.g., Evagene Clinical — a free open-source software available at www.evagene.com) are available..."

Kovács et al. (2022), "Enhancing Molecular Testing for Effective Delivery of Actionable Gene Diagnostics," Bioengineering 9(12):745.
2nd Department of Paediatrics, Semmelweis University, Budapest.

The papers

Every paper below is linked to its canonical PubMed Central or journal record. Click through to read the full text and author affiliations in the primary source.

Case study Marfan syndrome · 2023

Health Science Reports

Clinical and genetic screening in a large Iranian family with Marfan syndrome: A case study

Vafaeie, Miri Karam, Yari, Safarpour, Kazemi, Etesam, Mohammadpour, Miri‑Moghaddam. Evagene was used to create the family pedigree chart.

PMC10591539 doi.org/10.1002/hsr2.1647

Variant report Nephronophthisis-4 · 2024

Journal of Clinical Laboratory Analysis

Identification of a novel deletion variant (c.2999_3005delTGTGTGT / p.Asn1000SerfsTer4) in NPHP4 associated with nephronophthisis-4

Miri Karam, Karimi Gohari, Rezazadeh Khabaz, Yari, Emami Meybodi, Attari, Torabi, Vafaeie, Moradi Moraddahande, Amiri, Saeidi. Family pedigree drawn in Evagene.

PubMed 38895833 doi.org/10.1002/jcla.25077

Molecular dynamics Retinitis pigmentosa · 2024

Journal of Clinical Laboratory Analysis

Exploring the molecular interaction between NR2E3 and NR1D1 in retinitis pigmentosa: A docking and molecular dynamics study

Vafaeie, Mohammadpour, Etesam, Zarifi, Yari, Nikandish, Hashemzadeh, Hajiabadi, Miri‑Moghaddam. From the methods: "Figure 1 displays the pedigree chart generated using Evagene software (https://www.evagene.com/)."

PMC11632900 doi.org/10.1002/jcla.25125

Methods review — explicit recommendation

Review article Molecular diagnostics · 2022

Bioengineering (MDPI)

Enhancing molecular testing for effective delivery of actionable gene diagnostics

Kovács, Némethi, Abonyi, Fekete, Kovács — 2nd Department of Paediatrics, Semmelweis University. Evagene recommended in the pre-test counselling section as a pedigree digitalisation tool.

PMC9774983 doi.org/10.3390/bioengineering9120745

Institutions represented in these papers

Based on the author affiliations listed in the primary publications.

Hungary

Semmelweis University — 2nd Department of Paediatrics, Budapest

Iran

Birjand University of Medical Sciences — Cellular & Molecular Research Center; Cardiovascular Diseases Research Center (Razi Hospital); Department of Molecular Medicine
Kerman University of Medical Sciences — Afzalipour Faculty of Medicine, Department of Medical Genetics; Institute of Neuropharmacology
Shahid Beheshti University of Medical Sciences — School of Rehabilitation (Optometry); School of Allied Medical Sciences, Tehran
Shahid Sadoughi University of Medical Sciences — Department of Medical Genetics; Yazd Cardiovascular Research Center
Technical and Vocational University (TVU) — Department of Biological Sciences, Tehran
University of Guilan — Department of Biology, Rasht
Islamic Azad University — Shiraz and Kerman branches
Razi Hospital — Department of Ophthalmology, Birjand
Welfare Organization of South Khorasan — Prevention Development Affairs

Government & agency listings

U.S. Department of Veterans Affairs — Technical Reference Model

Evagene is listed in the VA TRM v26.1 under Health Care > Medicine Services, as "pedigree and genetic software" allowing users to "draw genetic pedigrees, process the underlying information and identify abnormal risks of hereditary disease."

View the VA TRM entry

A note on what these citations represent. The papers above are independent scholarly works by researchers who chose Evagene as a pedigree-drawing tool. The institutions are listed as the author affiliations stated in each publication; they are not commercial customers or formal institutional endorsements of Evagene. The citations span the Windows-based Evagene (Xiasma Ltd., released as freeware from 2020) and are relevant to the current web-based Evagene, which is the direct successor and backward-compatible with legacy pedigree files.