34 Works

Geographic allele frequency variation in the 1000 Genomes hg38 NYGC dataset

Arjun Biddanda, Daniel Rice & John Novembre
A key challenge in human genetics is to describe and understand the distribution of human genetic variation. Often genetic variation is described by showing rela tionships among populations or individuals, in each case drawing inferences over a large number of variants. Here, we present an alternative representation of human genetic variation that reveals the relative abundance of different allele frequency patterns across populations. This approach allows viewers to easily see several features of human genetic...

Lit - A Collection of Literature Extracted Small Molecules to Speed Identification of COVID-19 Therapeutics

Yadu Babuji, Ben Blaiszik, Kyle Chard, Ryan Chard, Ian Foster, India Gordon, Zhi Hong, Kasia Karbarz, Zhuozhao Li, Linda Novak, Susan Sarvey, Marcus Schwarting, Julie Smagacz, Logan Ward & Monica Orozco White

Effects of taphonomic deformation on geometric morphometric analysis of fossils: a case study using the dicynodont Diictodon feliceps (Therapsida, Anomodontia)

Christian Kammerer, Michol Deutsch, Jacqueline Lungmus & Kenneth Angielczyk
Taphonomic deformation, the distortion of fossils as a result of geological processes, poses problems for the use of geometric morphometrics in addressing paleobiological questions. Signal from biological variation, such as ontogenetic trends and sexual dimorphism, may be lost if variation from deformation is too high. Here, we investigate the effects of taphonomic deformation on geometric morphometric analyses of the abundant, well known Permian therapsid Diictodon feliceps. Distorted Diictodon crania can be categorized into seven typical...

Implementation of a learning healthcare system for Sickle Cell disease: List of smart data elements contained in the Epic Smartform and their SmartData types

Robin Miller, Erin Coyne, Erin Crowgey, Dan Eckrich, Jeffrey Myers, Raymond Villanueva, Jean Wadman, Sidnie Jacobs-Allen, Renee Gresh, Samuel Volchenboum & E Anders Kolb
Objective: Using Sickle Cell Disease (SCD) as a model, the objective of this study was to create a comprehensive learning healthcare system to support disease management and research. A multidisciplinary team developed a SCD clinical data dictionary to standardize bedside data entry and inform a scalable environment capable of converting complex electronic healthcare records (EHR) into knowledge accessible in real-time. Materials and Methods: Clinicians expert in SCD care developed a data dictionary to describe important...

Data from: Integration of genomics and transcriptomics predicts diabetic retinopathy susceptibility genes

Andrew Skol, Segun Jung, Ana Marija Sokovic, Siquan Chen, Sarah Fazal, Olukayode Sosina, Poulami Borkar, Amy Lin, Maria Sverdlov, Dingcai Cao, Anand Swaroop, Ionut Bebu, Barbara Stranger & Michael Grassi
We determined differential gene expression in response to high glucose in lymphoblastoid cell lines derived from matched individuals with type 1 diabetes with and without retinopathy. Those genes exhibiting the largest difference in glucose response were assessed for association to diabetic retinopathy in a genome-wide association study meta-analysis. Expression Quantitative Trait Loci (eQTLs) of the glucose response genes were tested for association with diabetic retinopathy. We detected an enrichment of the eQTLs from the glucose...

Divergence, gene flow and the origin of leapfrog geographic distributions: the history of color pattern variation in Phyllobates poison-dart frogs

Roberto Márquez, Tyler Linderoth, Daniel Mejía-Vargas, Rasmus Nielsen, Adolfo Amézquita & Marcus Kronforst
The geographic distribution of phenotypic variation among closely related populations is a valuable source of information about the evolutionary processes that generate and maintain biodiversity. Leapfrog distributions, in which phenotypically similar populations are disjunctly distributed and separated by one or more phenotypically distinct populations, represent geographic replicates for the existence of a phenotype, and are therefore especially informative. Phyllobates poison frogs. We found evidence for high levels of gene flow between neighboring populations but not...

Origin of complexity in hemoglobin evolution

Arvind Pillai
Most proteins associate into multimeric complexes with specific architectures, which often have functional properties like cooperative ligand binding, allosteric regulation, or the capacity to perform mechanical work. We have no detailed knowledge of how any multimer and its functions arose during historical evolution. Here we use ancestral protein reconstruction and biophysical assays to dissect the evolutionary origins of vertebrate hemoglobin (Hb), a heterotetramer of paralogous α and β subunits, which mediates oxygen transport and exchange...

Thomas T. Allsen (1940–2019)

Bruce D. Craig

The Role of Information Theory in Gap-Filler Dependencies

Gregory Kobele, Linyang He & Ming Xiang

Registration Year

  • 2020

Resource Types

  • Dataset
  • Text
  • Model


  • University of Chicago
  • Field Museum of Natural History
  • University of Kansas
  • Stanford University
  • University of Copenhagen
  • Northwestern University
  • California Polytechnic State University
  • Universidade Presbiteriana Mackenzie
  • University of Massachusetts Amherst
  • University of Montana