In Nature this week, a team led by scientists from the Peter MacCallum Cancer Center report a comprehensive genomic analysis of high-grade serous ovarian cancer (HGSC), identifying various ways the disease develops resistance to treatments. The researchers analyzed 114 tumor and germline DNA samples from 92 patients with HGSC, and found that gene breakage in these samples inactivated a variety of tumor suppressors and contributed to chemotherapy resistance. They also discovered other molecular changes associated with chemotherapy resistance including mutations in the BRCA1 and BRCA2 genes. GenomeWeb has more on this study here.
And in Nature Biotechnology, University of Maryland researchers and collaborators at Pacific Biosciences publish the details of a new method for assembling large genomes with single-molecule sequencing. Called MinHash Alignment Process, or MHAP, the method allows for overlapping noise, long reads using probabilistic, locality-sensitive hashing. Using MHAP and the Celera Assembler, the investigators show, single-molecule sequencing can produce de novo near-complete eukaryotic assemblies that are 99.99 percent accurate when compared with available reference genomes.