Ernest Turro

TL;DR: The progress of the HPO project is reviewed, including specific areas of expansion such as common (complex) disease, new algorithms for phenotype driven genomic discovery and diagnostics, integration of cross-species mapping efforts with the Mammalian Phenotype Ontology, an improved quality control pipeline, and the addition of patient-friendly terminology.

TL;DR: A new statistical method, MMSEQ, deconvolves the mapping of reads to multiple transcripts (isoforms or haplotype-specific isoforms) and can take into account non-uniform read generation and works with paired-end reads.

TL;DR: This study used whole-genome sequencing in a national health system to streamline diagnosis and to discover unknown aetiological variants in the coding and non-coding regions of the genome, finding that rare alleles can explain the presence of some individuals in the tails of a quantitative trait for red blood cells.

TL;DR: A previously undetected layer of regulation affecting cell fating is unveiled, which involves transcriptional isoforms switching without noticeable changes at the gene level and resulting in the gain or loss of protein functions in blood cells involved in the immune system.