In PLOS Genetics, an international team led by investigators in Greece, the UK, Canada, and the US report on results from a search for rare genetic contributors to human hematological traits. With data from nearly 308,600 participants, the researchers looked for potential ties between more than a dozen blood-cell traits and almost 137,100 rare or splice site variants. Their analysis unearthed 56 rare variants that appeared to be associated with one or more of the 15 hematological traits — a set that included 31 variants not implicated in such traits in the past. "[O]ur results indicate that searching for rare coding or splice site variants in very large sample sizes can help prioritize causal genes at many [genome-wide association study] loci with complex human diseases and traits," the authors note.
For a PLOS One paper, a team from Spain takes a look at the feasibility of using exome sequencing to diagnose ciliopathy-like conditions. The researchers focused on half a dozen consanguineous families affected by ciliopathy-like diseases that did not appear to be caused by mutations contributing to a ciliary condition called Bardet-Biedl syndrome. Using ciliary disease-related variant filters and a suite of bioinformatics tools, the authors narrowed in on known ciliary disease-related genes in four of the families and uncovered a handful of candidate genes in the other two families. "Our data show the usefulness of this strategy to diagnose patients with unclear phenotypes, and therefore the success of applying such technologies to achieve a rapid and reliable molecular diagnosis, improving genetic counseling for these patients," the researchers say.
Researchers from Nigeria, India, and the US consider bladder microbiome contributions to urogenital schistosomiasis infections for a study appearing in PLOS Neglected Tropical Diseases. Using 16S ribosomal RNA sequencing, the team tested morning urine samples from 70 participants from southwestern Nigeria, comparing microbial community members in urine samples from individuals with or without Schistosoma haematobium infections and related bladder pathology. The search highlighted several microbes found at distinct levels depending on infection and bladder pathology status, pointing to microbes such as Sphingobacterium as potential infection markers.