Amalio Telenti

The paper identifies HBV host factors using CRISPR screens and human liver chimeric mice, finding that EXOC1 is antiviral and ZCCHC14 is proviral.

This study determines the structure of HKU1 spike RBD bound to TMPRSS2, identifies host receptor usage determinants, and shows the role of antibodies and glycan shielding in neutralization.

This paper introduces a massively parallel NeRF implementation for accelerating protein structure reconstruction from internal coordinates, achieving speedups of 400-1200x over previous methods.

The paper uses human genetic data to analyze 3D protein structures and identifies intolerant sites that correlate with functional and drug target properties.

The paper presents a tool that uses search engines and natural language processing to access and summarize clinical variant information from multiple genomic resources.

The paper develops a model to identify essential regulatory elements in the human genome using machine learning and validates it with functional screens.

This study identifies metabolic and genetic signatures of obesity using metabolome analysis and whole genome sequencing in twin and volunteer cohorts, revealing clinically meaningful heterogeneity.

This study identifies rare paternally-inherited structural variants contributing to autism by disrupting noncoding regions and coding genes, with differential parental contributions.

This paper screens adults using whole genome sequencing and imaging to detect age-related chronic disease risks, finding unrecognized diseases in 8% of participants and genomic correlations in 25%.

The paper analyzes genetic diversity across 11,257 human genomes to identify context-dependent conserved regions and their association with disease variants.

The paper addresses criticisms of a previous study on identifying individuals from whole-genome sequencing data by demonstrating the limitations of Erlich's simulation and highlighting the algorithm's use of multiple trait-based predictive models.

The paper estimates that viral genetic factors explain 29% and human factors 8.4% of variation in HIV-1 set point viral load, with a total heritability of 30%.

This study sequences 10,545 human genomes at 30-40x coverage, identifying 150 million variants and showing 84% of the genome can be confidently sequenced, with implications for clinical use.

The paper identifies misclassified variants in ClinVar by analyzing population prevalence and genetic risk patterns in whole genome sequencing data.

The paper estimates that 10.8% of human genes are haploinsufficient based on truncating variants in 11,546 individuals.

Sincell provides a statistical framework for assessing cell-state hierarchies in single-cell RNA-seq data, offering tools to identify stable hierarchies while accounting for noise.

The paper develops a Bayesian classification scheme to rank the pathogenicity of stop-gain and frameshift variants in innate immunity genes using sequence-based features and validates it against known disease variants.