Editorial Board Members’ Collection Series: Human Traits and Genomics

Dear Colleagues,

Studies of the genetic component that is associated with human traits rely on a variety of strategies encompassing case–control and linkage (family-based) designs, along with the integration of evolutionary models to assess the likelihood of different classes of mutations. Despite the advances in genomic sequencing technology, a significant portion of the genetic causes of rare and common traits remain elusive, as functional variants often extend beyond coding regions; this poses challenges to identification. The availability of new data and tools, such as the telomere-to-telomere reference sequence of the human genome, the introduction of a human pangenome reflecting the haplotypic diversity of a population, and the utilization of cutting-edge technologies for genome analysis, such as long-read sequencing technology, single-cell sequencing, and the introduction of deep learning methods to extract knowledge from genomic data, offer new dimensions with which to unravel the molecular basis associated with trait inheritance and development in humans. This collection series aims to gather papers illustrating the latest and most innovative approaches in genetic data analysis for human traits. These approaches aim to uncover the patterns that associate genomic profiles with Mendelian or complex traits, thus contributing to a deeper understanding of the intricate mechanisms that govern trait inheritance in the human population.

Dr. Giovanni Malerba
Prof. Dr. Lidia Larizza
Prof. Dr. Salvatore Saccone
Guest Editors

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• genetic data analysis
• genomic profiling
• trait inheritance
• DNA and RNA sequencing approaches
• deep learning methods