Metagenome-wide association studies (MWAS) have enabled the high-resolution investigation of associations between the human microbiome and several complex diseases, including type 2 diabetes, obesity, liver cirrhosis, colorectal cancer and rheumatoid arthritis.
the identification of taxa that are more or less abundant, as is the case with taxanomic approaches
the identification of microbial functions that are enriched or depleted
goal: inform the prevention, diagnosis and treatment of human disease in the future.
Review of alignment and SNP calling algorithms for next-generation sequencing data
2015, J Appl Genetics
Bioinformatic tools for next-generation sequencing (NGS) data processing.
Two of most significant tasks:
alignment to a reference genome -> suffix tries and hash tables. Suffix array-based aligners are memory efficient and work faster than hash-based aligners, but they are less accurate. Hash table algorithms tend to be slower but more sensitive.
detection of single nucleotide polymorphisms (SNPs) -> heuristic and probabilistic methods. Due to the computational demands of heuristic methods, probabilistic methods are more commonly used.