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Computational interpretation of human genetic variation

Deep learning of a bacterial and archaeal universal language of life enables transfer learning and illuminates microbial dark matter

The majority of microbial genomes have yet to be cultured, and most proteins identified in microbial genomes or environmental sequences cannot be functionally annotated. As a result, current computational approaches to describe microbial systems rely …

Evolution of the SARS-CoV-2 proteome in three dimensions (3D) during the first 6 months of the COVID-19 pandemic

Understanding the molecular evolution of the SARS-CoV-2 virus as it continues to spread in communities around the globe is important for mitigation and future pandemic preparedness. Three-dimensional structures of SARS-CoV-2 proteins and those of …

Inferring Potential Cancer Driving Synonymous Variants

Synonymous single nucleotide variants (sSNVs) are often considered functionally silent, but a few cases of cancer-causing sSNVs have been reported. From available databases, we collected four categories of sSNVs: germline, somatic in normal tissues, …

mebipred : identifying metal-binding potential in protein sequence

Motivation: metal-binding proteins have a central role in maintaining life processes. Nearly one-third of known protein structures contain metal ions that are used for a variety of needs, such as catalysis, DNA/RNA binding, protein structure …

Predicting embryonic aneuploidy rate in IVF patients using whole-exome sequencing

Infertility is a major reproductive health issue that affects about 12% of women of reproductive age in the United States. Aneuploidy in eggs accounts for a significant proportion of early miscarriage and in vitro fertilization failure. Recent …

Quantifying structural relationships of metal-binding sites suggests origins of biological electron transfer

Computational exploration of similarities among metal-binding protein structural motifs elucidates the origins of life. Biological redox reactions drive planetary biogeochemical cycles. Using a novel, structure-guided sequence analysis of proteins, …

Tightening the (neural) net for protein structure prediction

In this Journal Club article, Yana Bromberg discusses an early application of machine learning for protein structure prediction — a paper that shaped her career. It illustrates the value of ensuring that machine learning approaches are rooted in …

Decoding the effects of synonymous variants

Synonymous single nucleotide variants (sSNVs) are common in the human genome but are often overlooked. However, sSNVs can have significant biological impact and may lead to disease. Existing computational methods for evaluating the effect of sSNVs …

Impact of vitamin A transport and storage on intestinal retinoid homeostasis and functions

{textless}h3{textgreater}Abstract{textless}/h3{textgreater}{textless}p{textgreater}Lecithin:retinol acyltransferase and retinol-binding protein enable vitamin A (VA) storage and transport, respectively, maintaining tissue homeostasis of retinoids (VA …