Adam M. Novak

TL;DR: It is envisage that in future individual research laboratories, or clusters of colocated laboratories, will have in-house, low-cost automation work cells but will access DNA foundries via the cloud to carry out complex experimental workflows and accelerate the development and sharing of standardized protocols and metrology standards.

TL;DR: Vg as discussed by the authors is a toolkit of computational methods for creating, manipulating, and using these structures as references at the scale of the human genome, which provides an efficient approach to mapping reads onto arbitrary variation graphs using generalized compressed suffix arrays, with improved accuracy over alignment to a linear reference.

TL;DR: The emergence of human-specific NOTCH2NL genes may have contributed to the rapid evolution of the larger human neocortex, accompanied by loss of genomic stability at the 1q21.1 locus and resulting recurrent neurodevelopmental disorders.

TL;DR: This work surveys various projects underway to build and apply graph-based structures-which it is referred to as genome graphs-and discusses the improvements in read mapping, variant calling, and haplotype determination that genome graphs are expected to produce.

TL;DR: Already available approaches to construct and use pan-genomes are examined, the potential benefits of future technologies and methodologies are discussed, and open challenges from the vantage point of the above-mentioned biological disciplines are reviewed.