In PLOS Genetics, researchers from the UK and the US describe findings from a genetic study of Plasmodium falciparum populations in Thailand, Cambodia, Gambia, and Malawi. Using linkage disequilibrium patterns for 86,000 SNPs in 459 P. falciparum isolates from the four countries, the team tracked down genes under positive selection, including chloroquine-resistance loci in P. falciparum isolates from Thailand, Cambodia, and Gambia and artemisinin-resistance genes in the Cambodian isolates.
A PLOS One study by researchers in the US and Kenya considered genetic variation in the Epstein-Barr viruses present in pediatric patients in Kenya. The team did multiplexed, high-throughput sequencing on EBV isolates in lymphoblastoid cell lines generated for four infected individuals from western Kenya. Comparisons with existing sequences for EBV type 1 and 2 strains revealed close relationships between the sub-Saharan isolates and the EBV-1 strain in three of four cases, while the remaining case was more similar to EBV-2. "[W]e have shown that [next-generation sequencing] is highly useful for deciphering detailed inter- and intra-variations in EBV genomes," the study's authors say, "and that within a geographic region different EBV genetic variations can co-exist."
In another PLOS One paper, Chinese researchers searched for germline mutations in protein-coding sequences from 150 genes suspected of contributing to cancer risk in nearly 100 individuals with breast cancer. The search led to 42 suspicious mutations in 21 genes in 34 of the patients, including germline alterations affecting BRCA1, BRCA2, TP53, CDH1, and genes in the Fanconi anemia pathway. "Together, these findings highlight the importance of genetic testing based on [NCCN] guidelines and multi-gene analysis using [next-generation sequencing] may be a supplement to traditional genetic counseling," the study's authors argue.