Mini Review Identifying human disease genes: advances in molecular genetics and computational approaches

Improving medical students' knowledge of genetic disease: a review of current and emerging pedagogical practices

“…Until recently, clinical applications of genetics have been primarily limited to understand the underlying causes of rare diseases inherited in a Mendelian fashion. 1 The staggering pace of scientific and technological developments in the last 2 decades, however, has changed the face of what a thorough training regimen in genetics should look like for health professionals. 2 , 3 In 1990, less than 2% of the estimated 7,000 known Mendelian-based human disorders had a well-understood molecular basis.…”

Beyond Genome-Wide Association Studies: Identifying Variants Using -Omics Approaches

“…The technological progress in the genomic and postgenomic era can allow the genomics " A strategy of 'systems biology', based on the knowledge that individualized manifestations of complex diseases result from the interactions through complex networks of different molecular pathways... " future science group Beyond genome-wide association studies: identifying variants using -omics approaches Editorial analysis of '-omics' profiling data and the identification of disease biomarkers and relevant functional genetic variants. The assessment of the interactive networks ('interactome') that exist is of tremendous importance and the use of new computational and bioinformatics methods will allow the causal inference analysis and the construction of the molecular pathways that link the genotype with the diseases, which will contribute to decoding of this complexity [19,20]. A strategy of 'systems biology', based on the knowledge that individualized manifestations of complex diseases result from the interactions through complex networks of different molecular pathways, and using a variety of experimental, theoretical and computational techniques will likely lead to the identification of set of data including genetic biomarkers with the potential to be efficiently used in personalized medicine.…”

f-treeGC: a questionnaire-based family tree-creation software for genetic counseling and genome cohort studies

“…Familial/pedigree information is valuable for variant filtering in high-throughput sequencing studies [17, 18]. Molecular approaches for the identification of disease-associated genes generally begin with pedigree-based methods, including positional cloning and founder gene approaches, prior to the use of pedigree-independent methods such as candidate gene approaches and genome-wide association studies [19]. With the recent explosion in whole-genome sequencing, linkage analysis has emerged as an important and powerful analytical method for the identification of genes involved in disease etiology, often in conjunction with whole-genome sequencing filtering approaches [20].…”