55 research outputs found
En Banc Brief of Amici Curiae Law Professors James G. Dwyer, J. Herbie Difonzo, Jennifer A. Drobac, Deborah L. Forman, Marsha Freeman, William Ladd, Ellen Marrus, John E.B. Myers, and Deborah Paruch in Support of the Appellees
P1â504: Influence Of Patient Mci On Physician Conception Of Risk And DecisionâMaking For Cardiovascular Treatments
Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/153216/1/alzjjalz2019061109.pd
Discovery of common and rare genetic risk variants for colorectal cancer.
To further dissect the genetic architecture of colorectal cancer (CRC), we performed whole-genome sequencing of 1,439 cases and 720 controls, imputed discovered sequence variants and Haplotype Reference Consortium panel variants into genome-wide association study data, and tested for association in 34,869 cases and 29,051 controls. Findings were followed up in an additional 23,262 cases and 38,296 controls. We discovered a strongly protective 0.3% frequency variant signal at CHD1. In a combined meta-analysis of 125,478 individuals, we identified 40 new independent signals at Pâ<â5âĂâ10-8, bringing the number of known independent signals for CRC to ~100. New signals implicate lower-frequency variants, KrĂŒppel-like factors, Hedgehog signaling, Hippo-YAP signaling, long noncoding RNAs and somatic drivers, and support a role for immune function. Heritability analyses suggest that CRC risk is highly polygenic, and larger, more comprehensive studies enabling rare variant analysis will improve understanding of biology underlying this risk and influence personalized screening strategies and drug development.Goncalo R Abecasis has received compensation from 23andMe and Helix. He is currently an employee of Regeneron Pharmaceuticals. Heather Hampel performs collaborative research with Ambry Genetics, InVitae Genetics, and Myriad Genetic Laboratories, Inc., is on the scientific advisory board for InVitae Genetics and Genome Medical, and has stock in Genome Medical. Rachel Pearlman has participated in collaborative funded research with Myriad Genetics Laboratories and Invitae Genetics but has no financial competitive interest
Chemical kinetics in an atmospheric pressure helium plasma containing humidity
Atmospheric pressure plasmas are sources of biologically active oxygen and nitrogen species, which makes them potentially suitable for the use as biomedical devices. Here, experiments and simulations are combined to investigate the formation of the key reactive oxygen species, atomic oxygen (O) and hydroxyl radicals (OH), in a radio-frequency driven atmospheric pressure plasma jet operated in humidified helium. Vacuum ultra-violet high-resolution Fourier-transform absorption spectroscopy and ultra-violet broad-band absorption spectroscopy are used to measure absolute densities of O and OH. These densities increase with increasing H 2 O content in the feed gas, and approach saturation values at higher admixtures on the order of 3 Ă 10 14 cm â3 for OH and 3 Ă 10 13 cm â3 for O. Experimental results are used to benchmark densities obtained from zero-dimensional plasma chemical kinetics simulations, which reveal the dominant formation pathways. At low humidity content, O is formed from OH + by proton transfer to H 2 O, which also initiates the formation of large cluster ions. At higher humidity content, O is created by reactions between OH radicals, and lost by recombination with OH. OH is produced mainly from H 2 O + by proton transfer to H 2 O and by electron impact dissociation of H 2 O. It is lost by reactions with other OH molecules to form either H 2 O + O or H 2 O 2 . Formation pathways change as a function of humidity content and position in the plasma channel. The understanding of the chemical kinetics of O and OH gained in this work will help in the development of plasma tailoring strategies to optimise their densities in applications
The OncoArray Consortium: A Network for Understanding the Genetic Architecture of Common Cancers
Exploring the Boundaries of Families Created with Known Sperm Providers: Who\u27s In and Who\u27s Out?
Interstate Recognition of Same-Sex Parents in the Wake of Gay Marriage, Civil Unions, and Domestic Partnerships
This Article examines the parental rights of a same-sex partner/spouse who is neither biologically related to, nor an adoptive parent of, a child being raised by the couple. Using a hypothetical example of a same-sex couple with one child, this Article explores whether the parental rights granted to a non-biological parent by marriage, civil union, or domestic partnership can and will survive a move to another state that does not explicitly recognize such same-sex relationships. Relying on statutory and common law precedents, this Article argues that even in those jurisdictions that have enacted a mini- Defense of Marriage Act, parental rights likely can survive the invalidation of a same-sex relationship because the Uniform Parentage Act, precedents regarding the legitimacy of children, and general choice of law principles all provide potent arguments for advocates seeking to preserve the parental rights of the same-sex partner
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