title: From genes to health - challenges and opportunities.
abstract: In genome science, the advancement in high-throughput sequencing technologies and bioinformatics analysis is facilitating the better understanding of Mendelian and complex trait inheritance. Charting the genetic basis of complex diseases - including pediatric cancer, and interpreting huge amount of next-generation sequencing data are among the major technical challenges to be overcome in order to understand the molecular basis of various diseases and genetic disorders. In this review, we provide insights into some major challenges currently hindering a better understanding of Mendelian and complex trait inheritance, and thus impeding medical benefits to patients.
authors.affiliation: Princess Al-Jawhara Al-Brahim Center of Excellence in Research of Hereditary Diseases (PACER-HD), Department of Genetic Medicine, King Abdulaziz University , Jeddah , Saudi Arabia.
authors.forename: Muhammad Ramzan
authors.initials: MR
authors.lastname: Manwar Hussain
authors.affiliation: Department of Biochemistry, Abdul Wali Khan University , Mardan , Pakistan.
authors.forename: Asifullah
authors.initials: A
authors.lastname: Khan
authors.affiliation: Princess Al-Jawhara Al-Brahim Center of Excellence in Research of Hereditary Diseases (PACER-HD), Department of Genetic Medicine, King Abdulaziz University , Jeddah , Saudi Arabia.
authors.forename: Hussein Sheikh
authors.initials: HS
authors.lastname: Ali Mohamoud
keywords: Mendelian puzzles; challenges; genomics; next-generation sequencing; pediatric cancer