In Nature this week, an international research team reports an analysis of whole-genome sequences from three key subtypes of melanoma — cutaneous, acral, and mucosal — revealing distinct mutation processes, profiles, and drivers across the subtypes, as well as a landscape of non-coding mutations and "paradoxical relationships" between telomere maintenance gene mutations and telomere length. The scientists found that most melanomas had potentially actionable mutations, and discovered diverse carcinogenic processes across its subtypes, including ones unrelated to sun exposure. GenomeWeb has more on this here.
And in Nature Genetics, a team led by scientists from the University of Pennsylvania presents the genome of the golden orb-weaver (Nephila clavipes), gaining new insights into the genetics of spider silk production. The investigators cataloged 28 spidroins — the proteins that are the primary component of spider silk — which represents all known orb-weaver spidroin types, and identified 394 repeated coding motif variants and higher-order repetitive cassette structures unique to specific spidroins. They also characterized spidroin expression in distinct silk gland types, discovering that glands can express multiple spidroin types. Additionally, they found evidence of an alternatively spliced spidroin, a spidroin expressed only in venom glands, evolutionary mechanisms for spidroin diversification, and non-spidroin genes with expression patterns that suggest roles in silk production.
Lastly, in Nature Methods, scientists from Massachusetts General Hospital report a highly sensitive, sequencing-efficient in vitro screening strategy for identifying CRISPR/Cas9 genome-wide off-target mutations. Called circularization for in vitro reporting of cleavage effects by sequencing, or CIRCLE-seq, the method can be practiced using widely accessible next-generation sequencing technology and does not require reference genome sequences. It can also be used to identify off-target mutations associated with cell-type-specific single-nucleotide polymorphisms, the authors state. GenomeWeb also covers this here.