In Science this week, an international team reports analyzing DNA of ancient humans from Northern Africa, revealing a lack of relatedness to ancient Europeans that counters the hypotheses of gene flow from Paleolithic Europeans into Late Pleistocene North Africans. The researchers sequenced DNA extracted from the bone matter of several 15,000-year-old individuals who lived in what is now Morocco, and compared their results to genomic data on other ancient and modern individuals. They found nearly 600,000 overlapping genetic markers that point to a close connection between ancient north Africans and near Easterners, thus providing direct evidence for genetic interactions between modern humans across Africa and Eurasia in the Pleistocene. GenomeWeb has more on this, here.
Also in Science, a multi-institute group of researchers describes the combination of genomic data with symptom, treatment, and outcome information from electronic health records (EHRs) to identify patients with unrecognized Mendelian diseases. In their study, the researchers analyzed the genomes of more than 21,000 adults of European ancestry, linking their findings with phenotypic data from EHRs to create phenotype risk scores — or PheRSs — that express the degree to which an individual’s symptoms overlap with a Mendelian disease. They found 18 associations between rare variants and phenotypes consistent with Mendelian diseases, and in 16 individuals the rare genetic variants were associated with severe outcomes. Though challenges remain to the broad clinical implementation of PheRSs, "approaches like ours may ultimately enable the conversion of big data not just to knowledge but also to improved care and outcomes for patients," the authors write. GenomeWeb also covers this study, here.