A news feature in Nature looks at the work of the "genome finishers," particularly Deanna Church, who spend their days sorting out problems found in the human reference genome. Some critics say Church and her colleagues in the Genome Reference Consortium shouldn't bother — Lincoln Stein says it is "more of an abstract exercise than one that's going to have a practical impact" — but Church says the little things count, particularly as genomics moves into the clinic.
A group from Decode says that the parental origins of alleles can be determined. The researchers looked at 38,167 Icelanders genotyped with SNP chips and combined genealogy and long-range phasing to study the parental origins of SNPs associated with disease. They found that five of the seven SNPs they looked at had parental-origin-specific associations. "Results presented here demonstrate that a portion of the heritability of some common/complex traits is hidden in more complex relations between sequence variants and the risks of these variants," the authors write.
Two groups report on SUMO's role with ubiquitin in DNA repair. Ellen Solomon's group found the SUMO pathway plays a role in regulating BRCA1 and in the DNA damage response to genotoxic stress. Stephen Jackson's lab also notes that SUMOylation and ubiquitylation coordinate the response to double-stranded DNA breaks. "It is clear from the current studies that SUMOylation functions at multiple levels during the DNA-damage response and this will provide fertile ground for future research," adds a News and Views.
Two advanced online Nature articles offer looks into different cancer genomes. Michael Stratton's team sequenced a malignant melanoma and a lymphoblastoid cell line from the same person to create a catalog of somatic mutations found in a cancer genome. Peter Campbell's group sequenced a small-cell lung cancer cell line to find mutations associated with tobacco smoke; they identified 22,910 somatic substitutions, including 134 in coding regions.