This variant alters protein function, but is it pathogenic?

This variant alters protein function, but is it pathogenic?

Identifying the causative mutation for a mendelian disease among several, or many, genetic variants represents a challenge, even more so with the increasing use of next-generation sequencing for genetic diagnosis. In 2015, the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) proposed guidelines to classify variants in genes associated wi...

But we've always done it this way!

Bingham, P., Ashikaga, T. & Abbasi, S. (2010). Prospective study of non-nutritive sucking and feeding skills in premature infants. Archives of Disease in Childhood, Fetal Neonatal Edition, 95(3): F 194-200. Kirk, A., Alder, S. & King, J. (2007). Cue-based oral feeding clinical pathway results in earlier attainment of full oral feeding in premature infants. Journal of Perinatology, 27: 572-578. ...

But Is It Phenomenology?

But is it art?

It was in an evening class for painting that developmental biologist Enrico Coen began to think about the parallels between the genetic control of development and an artist’s design of a picture. When Coen’s teacher found him staring at a blank piece of canvas, Coen complained that he had no idea how to start. The teacher suggested he should begin by depicting the objects on the table with some...

But is it science?

Early years science education is not science, but a curricular construction designed to induct young children into a range of ideas and practices related to the natural world. While inquiry-based learning is an important approach to this, it is not of itself unique to science and there are a range of logico-mathematical constructions that come closer to the essence of science. In this paper we ...