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This Week in Genome Research: Aug 17, 2016

Members of the International Pangolin Research Consortium present findings from a genome sequencing study of the scaly, placental mammals. The team started by putting together genome sequences for Malayan and Chinese pangolins (Manis javanica and M. pentadactyla, respectively), identifying 23,446 predicted protein-coding genes in the Malayan pangolin genome and 20,298 predicted Chinese pangolin genes. Along with the pseudogenization of genes suspected of contributing to scale formation and other pangolin features, the researchers detected adaptations involving genes related to everything from muscle, nervous system, and hair development to inflammation and immunity. The animals also appear to have expanded olfactory gene families, consistent with their keen smelling skills.

Researchers from the British Columbia Cancer Agency and the University of Groningen map polymorphic inversions in cells from two unrelated individuals using "single-cell sequencing of DNA template strands," or Strand-seq — a single-cell sequencing and analysis approach focused on the parental DNA strands inherited by daughter cells during mitosis. With specialized software, sequences from individual cells are parsed into minor or plus strands to assess inter- and intra-cell heterogeneity. When it used this approach on dozens of individual cells from a pooled sample, the team uncovered 111 polymorphisms, profiling structural rearrangements genome-wide and narrowing in on apparent inversions in the human reference genome assembly.

A Harris County Institute of Forensics and Baylor College of Medicine team presents findings from a postmortem genetic screening study of more than 351 infants and young people with unexplained sudden death. Through targeted, massively parallel sequencing on a panel of 64 genes implicated in sudden death — which reportedly cost less than $600 per case — the researchers narrowed in on reportable genetic variants in eight infants and five children or young adults. The study' authors note that "we recommend ongoing assessment of data, including non-reported novel variants, as technology and literature continually advance." GenomeWeb reported on a prior Genome Research paper by some of the same investigators, which offered ethical guidelines for doing molecular autopsies on sudden death cases in adolescents and young adults.