Heidi L. Rehm, PhD, Massachusetts General Hospital, Broad Institute of MIT and Harvard University, USA
Steven Harrison, PhD, Genomic Science Director, Ambry Genetics, USA
Genome Medicine is calling for submissions to a new Collection on clinical interpretation of genomic variation covering the breadth of human disease including rare, Mendelian and common complex diseases.
The interpretation of genome variation forms the foundation of clinical genomic diagnosis and gene discovery. Whilst advances in sequencing technologies and novel approaches for assessing variants continues to expand our understanding of genetic variation and accurate variant classification, interpretation of variants of uncertain significance, the role of non-coding variants and assessing causality still remain a challenge. This Collection aims to explore the methodologies, frameworks, and implications of genome variation interpretation, emphasizing the integration of genomic data into clinical practice for enhancing patient diagnosis and improving outcomes.
We are now inviting the submission of Research, Method, Software, Database, and Guideline manuscripts of outstanding interest, describing advances in understanding and interpreting genome variation and its impact on disease diagnosis and treatment, including but not limited to the following topics:
All manuscripts submitted to this journal, including those submitted to collections and special issues, are assessed in line with our editorial policies and the journal’s peer review process. Reviewers and editors are required to declare competing interests and can be excluded from the peer review process if a competing interest exists.
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Heidi L. Rehm, PhD, Massachusetts General Hospital, Broad Institute of MIT and Harvard University, USA
Heidi Rehm, PhD, is an investigator in the Center for Genomic Medicine at MGH, Co-Director of the Program in Medical and Population Genetics at the Broad Institute as well as the Medical Director at Broad Clinical Laboratories. She is a principal investigator of ClinGen and gnomAD, providing resources to support the interpretation of genes and variants. Rehm co-leads the Broad Center for Mendelian Genomics and the Matchmaker Exchange focused on discovering causes of rare disease. She is a strong advocate and pioneer of open science and data sharing, working to extend these approaches as chair of the Global Alliance for Genomics and Health.
Steven Harrison, PhD, Genomic Science Director, Ambry Genetics, USA
Steven Harrison, PhD, FACMG, is an ABMGG board-certified molecular geneticist working as Genomic Science Director at Ambry Genetics. His work focuses on variant classification approaches and standardization at both a CLIA-certified molecular diagnostic laboratory and as part of the NIH-funded Clinical Genome Resource (ClinGen) program. Within ClinGen, Steven co-chairs the Sequence Variant Interpretation Working Group, which aims to develop general recommendations to the ACMG-AMP variant interpretation guidelines. He completed his PhD in Genetics & Development in 2014 at the University of Texas Southwestern Medical Center and completed his ABMGG Clinical Molecular Genetics and Genomics fellowship in 2018 at Harvard Medical School.
There are currently no articles in this collection.
This Collection welcomes submission of original Research Articles. Should you wish to submit a different article type, please read our submission guidelines to confirm that type is accepted by the journal. Articles for this Collection should be submitted via our submission system, Snapp. During the submission process you will be asked whether you are submitting to a Collection, please select "Clinical Interpretation of genome variation: volume II" from the dropdown menu.
All manuscripts submitted to this journal, including those submitted to collections and special issues, are assessed in line with our editorial policies and the journal’s peer review process. Reviewers and editors are required to declare competing interests and can be excluded from the peer review process if a competing interest exists.