Mutations in the pancreatic secretory enzymes and are associated with pancreatic cancer.

To evaluate whether germline variants in genes encoding pancreatic secretory enzymes contribute to pancreatic cancer susceptibility, we sequenced the coding regions of and other genes encoding pancreatic secretory enzymes and known pancreatitis susceptibility genes (, , , and ) in a hospital series of pancreatic cancer cases and controls. Variants in , (encoding carboxypeptidase B1 and A1), and were evaluated in a second set of cases with familial pancreatic cancer and controls. More deleterious variants, defined as having impaired protein secretion and induction of endoplasmic reticulum (ER) stress in transfected HEK 293T cells, were found in the hospital series of pancreatic cancer cases (5/986, 0.

Working toward precision medicine: Predicting phenotypes from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges.

Precision medicine aims to predict a patient's disease risk and best therapeutic options by using that individual's genetic sequencing data. The Critical Assessment of Genome Interpretation (CAGI) is a community experiment consisting of genotype-phenotype prediction challenges; participants build models, undergo assessment, and share key findings. For CAGI 4, three challenges involved using exome-sequencing data: Crohn's disease, bipolar disorder, and warfarin dosing.

Transitioning From Occupational Therapy Student To Practicing Occupational Therapist: First Year of Employment.

This research examined the transition from occupational therapy student to practicing occupational therapist over the course of one's first year of professional employment, as recalled by a sample of occupational therapists. Surveys were mailed to 500 occupational therapists randomly selected from membership in the American Occupational Therapy Association resulting in 202 returned surveys. Median year of graduation was 1998, ranging from 1967 to 2014.

Whole Genome Sequencing Defines the Genetic Heterogeneity of Familial Pancreatic Cancer.

Unlabelled: Pancreatic cancer is projected to become the second leading cause of cancer-related death in the United States by 2020. A familial aggregation of pancreatic cancer has been established, but the cause of this aggregation in most families is unknown. To determine the genetic basis of susceptibility in these families, we sequenced the germline genomes of 638 patients with familial pancreatic cancer and the tumor exomes of 39 familial pancreatic adenocarcinomas.

Maize HapMap2 identifies extant variation from a genome in flux.

Whereas breeders have exploited diversity in maize for yield improvements, there has been limited progress in using beneficial alleles in undomesticated varieties. Characterizing standing variation in this complex genome has been challenging, with only a small fraction of it described to date. Using a population genetics scoring model, we identified 55 million SNPs in 103 lines across pre-domestication and domesticated Zea mays varieties, including a representative from the sister genus Tripsacum.