Diagnosis and Management of Constitutional Mismatch Repair Deficiency Syndrome.

Constitutional mismatch repair deficiency (CMMRD) syndrome is a rare autosomal recessive genetic disorder that has little more than 200 total cases reported as of 2020. Whereas a single mutation in genes responsible for mismatch repair causes the autosomal dominant Lynch syndrome (LS), CMMRD is caused by biallelic heterozygous defects: distinct deleterious mutations on each allele for a single gene. As the disease is exceedingly rare and may present via a wide variety of signs, including neurofibromatosis type 1- and Lynch Syndrome-associated malignancies, diagnosis and subsequent surveillance are complex with suggested methods published by the International Replication Repair Deficiency Consortium.

Evolutionary insights into primate skeletal gene regulation using a comparative cell culture model.

The evolution of complex skeletal traits in primates was likely influenced by both genetic and environmental factors. Because skeletal tissues are notoriously challenging to study using functional genomic approaches, they remain poorly characterized even in humans, let alone across multiple species. The challenges involved in obtaining functional genomic data from the skeleton, combined with the difficulty of obtaining such tissues from nonhuman apes, motivated us to consider an alternative in vitro system with which to comparatively study gene regulation in skeletal cell types.

Conceptual complexity and the bias/variance tradeoff.

In this paper we propose that the conventional dichotomy between exemplar-based and prototype-based models of concept learning is helpfully viewed as an instance of what is known in the statistical learning literature as the bias/variance tradeoff. The bias/variance tradeoff can be thought of as a sliding scale that modulates how closely any learning procedure adheres to its training data. At one end of the scale (high variance), models can entertain very complex hypotheses, allowing them to fit a wide variety of data very closely--but as a result can generalize poorly, a phenomenon called overfitting.

Integrating natural language processing with FlyBase curation.

Applying Natural Language Processing techniques to biomedical text as a potential aid to curation has become the focus of intensive research. However, developing integrated systems which address the curators' real-world needs has been studied less rigorously. This paper addresses this question and presents generic tools developed to assist FlyBase curators.