Our Scientific Publications
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bioRxiv · July 30, 2020 · Preprint
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bioRxiv · July 24, 2020 · Preprint
Multi-Platform Assessment of DNA Sequencing Performance using Human and Bacterial Reference Genomes in the ABRF Next-Generation Sequencing Study.
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Current Opinion in Genetics & Development · July 14, 2020
The role of clustered protocadherins in neurodevelopment and neuropsychiatric diseases.
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Cell · June 24, 2020
Niche-Selective Inhibition of Pathogenic Th17 Cells by Targeting Metabolic Redundancy.
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Cell Reports · June 23, 2020
Epigenomically Bistable Regions across Neuron-Specific Genes Govern Neuron Eligibility to a Coding Ensemble in the Hippocampus.
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PLOS Computational Biology · June 19, 2020
A crowdsourced set of curated structural variants for the human genome.
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bioRxiv · June 20, 2020 · Preprint
Phenome-scale causal network discovery with bidirectional mediated Mendelian randomization.
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PLOS Computational Biology · June 19, 2020
A Crowdsourcing app to visualize evidence of structural variants for the human genome.
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bioRxiv · June 16, 2020 · Preprint
Improving oligo-conjugated antibody signal in multimodal single-cell analysis.
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Cells · June 5, 2020
Cell Type-Specific In Vitro Gene Expression Profiling of Stem Cell-Derived Neural Models.
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Cell Reports · June 2, 2020
Acute Myeloid Leukemia iPSCs Reveal a Role for RUNX1 in the Maintenance of Human Leukemia Stem Cells.
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bioRxiv · June 1, 2020 · Preprint
Direct detection of RNA modifications and structure using single molecule nanopore sequencing.
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Nature Medicine · June 1, 2020
Genome-wide cell-free DNA mutational integration enables ultra-sensitive cancer monitoring.
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Genome Medicine · May 27, 2020
The Medical Genome Initiative: Moving Whole-Genome Sequencing for Rare Disease Diagnosis to the Clinic.
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Am J Respir Crit Care Med · May 27, 2020
Whole Genome Sequencing Identifies Novel Functional Loci Associated with Lung Function in Puerto Rican Youth.
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Nature · May 27, 2020
Mapping and characterization of structural variation in 17,795 human genomes.
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The Lancet Psychiatry · May 20, 2020
Mental Health Delivery and Neurogenetics Discovery in Africa.
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Genome Biology · April 28, 2020
ExpansionHunter Denovo: A computational method for locating known and novel repeat expansions in short-read sequencing data.
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Genetics · April 23, 2020
Novel KITLG/SCF regulatory variants are associated with lung function in African American children with asthma.
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Nature Communications · April 20, 2020
High throughput pMHC-I tetramer library production using chaperone-mediated peptide exchange.
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Neuron · March 27, 2020
The Loss of TBK1 Kinase Activity in Motor Neurons or in All Cell Types Differentially Impacts ALS Disease Progression in SOD1 Mice.