Remarkable advances have been made in genetics and genomics over the last decade due to the rapid technology innovation in microarray and sequencing. As a result of biomedical discoveries, it is feasible to improve the diagnosis and treatment by genetic and genomic test, paving the way for an era of personalized medicine in health care. However, it remains a challenge to identify the small mutations from massive amounts of genomic data. There is an unprecedented demand for novel computational methods and analytical strategies to improve genome alignment, genome assembly, variants identification, genotype calling and association tests, etc.

This special issue aims to encourage and publish applications of innovative analysis pipelines and algorithms to find the accurate resolution of complex genetic and genomic problems in a time efficient manner. We look for high-quality papers that contribute to diagnosis and management of human disorders.

Potential topics include, but are not limited to:

• Algorithms, software tools, and pipelines for NGS analysis and annotation
• Algorithms, software tools, and pipelines for GWAS and CNV analysis and annotation
• Algorithms and software tools for predicting the phenotypic impacts and therapeutically impacts of genomic variation
• Algorithms, software tools, and studies for exploring actionable information extracted from personal genomes/exome data sets
• Biological network and pathway analysis on cancer and other complex diseases
• Discovery of mutations in Mendelian diseases
• Discovery of biomarkers from genomics data