Bioinformatics, that is the interdisciplinary field that blends computer science and biostatistics with biological and biomedical sciences, is expected to gain a central role in next feature. Indeed, it has now affected several fields of biology, providing crucial hints for the understanding of biological systems and also allowing a more accurate design of wet lab experiments. In this work, the…
Genome-wide association studies have successfully identified a growing number of common variants that robustly associate with a wide range of complex diseases and phenotypes. In the majority of cases though, the variants are predicted to have small to modest effect sizes, and, due to the technologies used, many of the signals discovered so far may not be the causal loci. As rare variation studi…
In the last decade, the rise of affordable affordable high-throughput sequencing technologies has led to rapid advances across the biological sciences. At the time of writing, annotated reference genomes are available within most clades of eukaryotic pathogens, and including un-annotated sequences over 550 genomes are available in total. This This has greatly facilitated studies in many areas o…
This open access book offers a comprehensive overview of the history of genomics across three different species and four decades, from the 1980s to the recent past. It takes an inclusive approach in order to capture not only the international initiatives to map and sequence the genomes of various organisms, but also the work of smaller-scale institutions engaged in the mapping and sequencing of…
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