Participants in human genomics studies are typically guaranteed anonymity, a practice intended to safeguard against use of an individual's data by outside parties like insurers or employers.

Just how anonymous, though, is this anonymous data?
This week in Nature, Erica Check Hayden profiles Whitehead Institute researcher Yaniv Erlich, a computational biologist who is applying lessons learned from his days as a hacker to investigate the security of genomic study data. And this data, it turns out, isn't all that secure.

For instance, Check Hayden reports, in a paper published in Science this January, Erlich's lab demonstrated they could identify participants in genetic research studies by cross-referencing their genetic data with publicly available information like age and place of residence.

Using a software program he and an undergraduate student had developed for profiling short tandem repeats, Erlich identified nearly 50 supposedly anonymous participants from the 1000 Genomes project.

As Check Hayden observes, this wasn't the first time someone had demonstrated that it was possible to identify study participants based on their data. Those past efforts, though, had relied on other sources of research data.

"Erlich's study," she writes, "upped the stakes, because it showed that it was possible to identify people from their genetic data by linking not to other sources of research data, but to information freely available on the Internet."

How, exactly, the community can and will address this issue isn't entirely clear, but regardless, Check Hayden says, Erlich has helped move the problem into the spotlight.

Queen Mary University of London's Pedro Cutillas and colleagues from the UK describe phosphoproteomic analyses of cancer cell lines and potential applications of this information in the early, online edition of Genome Biology. When the researchers used mass spectrometry to assess phosphorylation levels at some 2,000 sites in nine cancer cell lines — three representatives apiece from acute myeloid leukemia, lymphoma, and multiple myeloma — they found that cell lines tended to cluster by cancer type. And the team's more in-depth analysis of seven AML lines suggested phosphoproteomics can provide clues to which tumor samples are more or less apt to respond to compounds that inhibit kinase enzymes.

A Wellcome Trust Sanger Institute team outlines a new computational method for surmising the sorts of mutational processes at play in cancer genomes. After applying this probabilistic inference approach, called Emu, to simulated data, the researchers used it to scour sequences from 21 previously sequenced breast cancer samples. Those tumors harbored signs of four main mutational processes, study authors explained. And in conjunction with known functional annotations in the genome, the nature of the mutations and their locations offered clues to some of the biological processes going awry in the tumors.

The human microbiome is home to a range of mobile genetic elements that provide insights into the viral pathogens or plasmids that microbiome members have encountered in the past, according to another Genome Biology study. Researchers from Indiana University and the Roswell Park Cancer Institute sifted through metagenomic sequence data, focusing on spacer sequences at the so-called CRISPR locus, a site in the genome where sequences from potential genetic interlopers are integrated as part of the CRISPR-CAS system used in the bacterial and archaeal immune system. Using data from 95,000 contigs — corresponding to sequences potentially targeted by CRISPR spacers in the metagenomic data — the group was able to tally up and compare the apparent mobile genetic element networks found in the human mouth and gut microbiomes.

A fracas among scientists has broken out over whether genomic information has shown that most Jews share a common origin place in the Middle East, a question that has implications over racial and ethnic identity issues, but also may be tied to claims about rights to land, Rita Rubin writes in the Jewish Daily Forward.

The central dispute is about the long-asked question: "Where in the world did Ashkenazi Jews come from?" Rubin explains.

A long-standing hypothesis has been that Ashkenazi Jews have a common Middle Eastern ancestry with most other Jews.

Rubin writes that this explanation "affirms the understanding that many Jews themselves hold of who they are in the world:" one people with an ethnic and racial bond who have scattered over the millennia.

The common Middle Eastern origin explanation is well established, and has genetic evidence to back it up. It asserts the Rhineland hypothesis, which maintains that Jews who fled Palestine in the Seventh Century ended up in Eastern Europe and Germany in the Middle Ages, and is espoused by Harry Ostrer, a professor of pathology and genetics at Yeshiva University's Einstein College of Medicine and author of the book "Legacy: A Genetic History of the Jewish People."

Now a Johns Hopkins University post-doc named Eran Elhaik has proposed that this hypothesis is wrong, and says that he has proven that Ashkenazi Jews are from the Caucusus, and that they are descended from a group called the Khazars.

He says in "The Missing Link of Jewish European Ancestry: Contrasting the Rhineland and the Khazarian Hypotheses," published in Genome Biology and Evolution in December, that the genetic heterogeneity of Ashkenazis is evidence for the Khazarian explanation, and that a common genetic marker found in DNA from Jews may have come from Iran.

To safeguard against contamination or accidental DNA transfer, particularly in forensic laboratories, Boise State University researchers developed a 120-basepair tag to be used as a way to identify samples. As they report in the Journal of Forensic and Legal Medicine, these nullomer barcodes, made up of DNA sequences that are not found in people, could be added to collection devices so DNA samples are tagged upon collection. Further, the researchers note that the barcode could reflect where and when the sample was obtained.

"If a suspect's DNA was tagged and then accidentally mixed with a crime-scene sample it would place them at the scene when perhaps they were not. But the tag's presence would prove that particular DNA sample came from sloppy lab or forensic practice and not the suspect," the New Scientist notes.

The Boise State researchers also show that if they diluted a tagged sample a million fold and drizzled it onto a knife, they could still detect the nullomer tags.

A University of California-led team sequenced the genomes of dozens of Batrachochytrium dendrobatidis isolates in an effort to understand the evolutionary history of the fungus — an amphibian pathogen that's had particularly detrimental effects on amphibian populations in the Americas. As they report in the early, online edition of the Proceedings of the National Academy of Sciences, the researchers found a great deal of genetic diversity amongst 29 B. dendrobatidis isolates collected from sites around the world, consistent with a complex evolutionary history for the fungus. They also saw signs of selective pressure on genes coding for protease enzymes, suggesting these processes are prone to shifts during evolutionary transitions.

Mutations to the RASA1 gene can cause conditions involving abnormalities to the lymphatic fluid-carrying vasculature, according to a study by researchers from Texas and Michigan. The group unearthed frame-shift mutations in RASA1 when they did whole-exome sequencing on a 20-year-old individual with a lymphatic condition called Parkes-Weber syndrome and his unaffected parents. Together with analyses of the affected individual's vasculature, the findings suggest RASA1 mutations may lead to unusual lymphatic vascular architecture, study authors say — a notion supported by experiments in mice missing the RASA1 gene. Even so, RASA1 mutations seem to have variable expressivity since the unaffected father in the exome-sequenced trio carried the same RASA1 alteration found in his Parkes-Weber syndrome-affected son.

For another study slated to appear online this week in PNAS, Cornell University researchers relied on data from the Drosophila Genetic Reference Panel to tally up natural genetic variation in the fruit fly — information that they used to help find new players in endoplasmic reticulum stress response pathways. The team treated flies from 114 sequenced DGRP lines with an ER stress-inducing compound called tunicamycin. By following flies' survival times and looking at how they corresponded with both array-based gene expression profiles and SNP patterns, the investigators identified 25 candidate ER stress response genes. Their follow-up functional experiments suggested that at least 17 of the genes could be plausible ER stress response pathway participants.