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'What Kind of Reference Is a Reference?'

In part one of his series on the existence of the human genome, Penn State researcher Ken Weiss talks about how "type specimens" chosen to represent entire species are arbitrary, especially considering how variable the species they represent actually are. In this way, he argued, "the human genome does not exist."

In part two of the series at The Mermaid's Tale blog, Weiss says perhaps reference sets are the best way to deal with the variability of species being studied, rather than one type sequence that is continually being revised, as the human genome is. But that also comes with its own set of problems. "What would be included in that set, and how many different sequences? If we want a road map, strictly as a reference for comparing sequences, how would a set be different from a single type specimen?" Weiss asks. "If we had a set of sequences, they would somehow capture both the typical elements and their variability, and these are vital to understanding both gene function and evolution."

The Scan

Genetic Tests Lead to Potential Prognostic Variants in Dutch Children With Dilated Cardiomyopathy

Researchers in Circulation: Genomic and Precision Medicine found that the presence of pathogenic or likely pathogenic variants was linked to increased risk of death and poorer outcomes in children with pediatric dilated cardiomyopathy.

Fragile X Syndrome Mutations Found With Comprehensive Testing Method

Researchers in Clinical Chemistry found fragile X syndrome expansions and other FMR1 mutations with ties to the intellectual disability condition using a long-range PCR and long-read sequencing approach.

Team Presents Strategy for Speedy Species Detection in Metagenomic Sequence Data

A computational approach presented in PLOS Computational Biology produced fewer false-positive species identifications in simulated and authentic metagenomic sequences.

Genetic Risk Factors for Hypertension Can Help Identify Those at Risk for Cardiovascular Disease

Genetically predicted high blood pressure risk is also associated with increased cardiovascular disease risk, a new JAMA Cardiology study says.