Analysis of 6,515 exomes reveals a recent origin of most human protein-coding variants

Establishing the age of each mutation segregating in contemporary human populations is important to fully understand our evolutionary history1,2 and will help facilitate the development of new approaches for disease gene discovery3. Large-scale surveys of human genetic variation have reported signatures of recent explosive population growth4-6, notable for an excess of rare genetic variants, qualitatively suggesting that many mutations arose recently. To more quantitatively assess the distribution of mutation ages, we resequenced 15,336 genes in 6,515 individuals of European (n=4,298) and African (n=2,217) American ancestry and inferred the age of 1,146,401 autosomal single nucleotide variants (SNVs). We estimate that ~73% of all protein-coding SNVs and ~86% of SNVs predicted to be deleterious arose in the past 5,000-10,000 years. The average age of deleterious SNVs varied significantly across molecular pathways, and disease genes contained a significantly higher proportion of recently arisen deleterious SNVs compared to other genes. Furthermore, European Americans had an excess of deleterious variants in essential and Mendelian disease genes compared to African Americans, consistent with weaker purifying selection due to the out-of-Africa dispersal. Our results better delimit the historical details of human protein-coding variation, illustrate the profound effect recent human history has had on the burden of deleterious SNVs segregating in contemporary populations, and provides important practical information that can be used to prioritize variants in disease gene discovery

"Physical education", "health and physical education", "physical literacy" and "health literacy": Global nomenclature confusion.

The title “physical education” (PE) is the traditional taxonomy used to represent the education discipline. Health and physical education (HPE) is regarded to be an all-encompassing health-dimensional title that has been recently embraced by various education systems around the world. Hence, it can be argued that PE and HPE are often used interchangeably by educationalists, portraying a similar meaning and understanding. This can be regarded as internationally confusing, as historically PE and HPE have represented different and at times paradoxical discourses and ideologies. Amongst the ambiguity of which title to use, PE or HPE, new terms of branding such as “physical literacy” and “health literacy” have re/emerged. The purpose of this interpretivist study is to identify if associated terms used for the original PE label are a help or hindrance to practitioners? Participants were asked an open-ended question relating to PE nomenclatures. The data gathered were analysed and findings confirmed that practitioner confusion does exist. It is suggested that children are first and foremost “physically educated”; therefore a strong, clear and comprehensive grounding in quality PE is essential for teachers and students

M dwarfs in the Local Milky Way: The Field Low-Mass Stellar Luminosity and Mass Functions

Modern sky surveys, such as the Sloan Digital Sky Survey (SDSS) and the Two-Micron All Sky Survey, have revolutionized how Astronomy is done. With millions of photometric and spectroscopic observations, global observational properties can be studied with unprecedented statistical significance. Low-mass stars dominate the local Milky Way, with tens of millions observed by SDSS within a few kpc. Thus, they make ideal tracers of the Galactic potential, and the thin and thick disks. In this thesis dissertation, I present my efforts to characterize the local low-mass stellar population, using a collection of observations from the Sloan Digital Sky Survey (SDSS). First, low-mass stellar template spectra were constructed from the co-addition of thousands of SDSS spectroscopic observations. These template spectra were used to quantify the observable changes introduced by chromospheric activity and metallicity. Furthermore, the average ugriz colors were measured as a function of spectral type. Next, the local kinematic structure of the Milky Way was quantified, using a special set of SDSS spectroscopic observations. Combining proper motions and radial velocities (measured using the spectral templates), along with distances, the full UVW space motions of over 7000 low-mass stars along one line of sight were computed. These stars were also separated kinematically to investigate other observational differences between the thin and thick disks. Finally, this dissertation details a project designed to measure the luminosity and mass functions of low-mass stars. Using a new technique optimized for large surveys, the field luminosity function (LF) and local stellar density profile are measured simultaneously. The sample size used to estimate the LF is nearly three orders of magnitude larger than any previous study, offering a definitive measurement of this quantity. The observed LF is transformed into a mass function (MF) and compared to previous studies

Investigations of migratory bull trout (Salvelinus confluentus) in relation to fish passage at Albeni Falls Dam

Final report prepared for the United States Department of the Army Corps of Engineers, Seattle District. Contract No. DACW68-02-D-00

Measuring strangeness matrix elements of the nucleon

Experiments are proposed to measure various strangeness matrix elements of the nucleon. Examples are electro- and neutrino- production of phi mesons and the difference between neutrino and antineutrino scattering from isospin zero targets, e.g., deuterons

Inclusive pion - proton scattering

The reactions {pi}+ p {yields} {pi}+ {hor_ellipsis} and {pi}+ p {yields} K+ {hor_ellipsis} will be studied over a wide range of the Feynman variables X, Q and S in order to test the conjectured scaling law for hadron collisions and study the form of the yield distributions. Particular attention will be paid to the vicinity of X = 0. The experiment will be carried out with a simple one-magnet spectrometer which takes full advantage of the kinematics and has wide acceptance and the capability of high precision