Our Scientific Publications
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bioRxiv · November 16, 2023 · Pre-Print
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The Journal of Clinical Investigation · November 14, 2023
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
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Nature Genetics · November 9, 2023
Most large structural variants in cancer genomes can be detected without long reads.
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bioRxiv · November 1, 2023 · Pre-Print
Small variant benchmark from a complete assembly of X and Y chromosomes.
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bioRxiv · October 27, 2023 · Pre-Print
AlphaMissense is better correlated with functional assays of missense impact than earlier prediction algorithms.
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Frontiers in Immunology · October 24, 2023
Heterozygote advantage at HLA class I and II loci and reduced risk of colorectal cancer.
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bioRxiv · October 20, 2023 · Pre-Print
LKB1 suppresses growth and promotes the internalization of EGFR through the PIKFYVE lipid kinase.
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bioRxiv · October 17, 2023 · Pre-Print
Detecting significantly recurrent genomic connections from simple and complex rearrangements in the cancer genome.
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bioRxiv · October 17, 2023 · Pre-Print
Large-scale causal discovery using interventional data sheds light on the regulatory network architecture of blood traits.
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bioRxiv · October 12, 2023 · Pre-Print
A sequence context-based germline filter for structural variant calling from tumor samples without paired normal.
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Molecular Psychiatry · October 5, 2023
Astrocytic β-catenin signaling via TCF7L2 regulates synapse development and social behavior.
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The American Journal of Human Genetics · October 5, 2023
Rare variants in long non-coding RNAs are associated with blood lipid levels in the TOPMed whole-genome sequencing study.
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The American Journal of Human Genetics · October 5, 2023
Heterozygous deletion of the autism-associated gene CHD8 impairs synaptic function through widespread changes in gene expression and chromatin compaction.
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bioRxiv · October 2, 2023
Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies ANTXR2 as a candidate in PLS.
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Acta Neuropathologica Communications · September 28, 2023
Integration of single-nuclei RNA-sequencing, spatial transcriptomics and histochemistry defines the complex microenvironment of NF1-associated plexiform neurofibromas.
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Nature Immunology · September 21, 2023
Multimodal single-cell datasets characterize antigen-specific CD8+ T cells across SARS-CoV-2 vaccination and infection.
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NPJ Precision Oncology · September 13, 2023
Evolution of structural rearrangements in prostate cancer intracranial metastases.
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medRxiv · September 12, 2023 · Pre-Print
Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease.
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bioRxiv · September 12, 2023 · Pre-Print
Cas13d-mediated isoform-specific RNA knockdown with a unified computational and experimental toolbox.
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bioRxiv · September 12, 2023 · Pre-Print
Multi-OMIC analysis of Huntington disease reveals a neuroprotective astrocyte state.
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Cell Genomics · September 6, 2023
The functional impact of rare variation across the regulatory cascade.