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Molecular Psychiatry · March 14, 2024
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PLoS One · March 13, 2024
The impact of genetically controlled splicing on exon inclusion and protein structure.
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European Journal of Human Genetics · March 11, 2024
Evidence for the additivity of rare and common variant burden throughout the spectrum of intellectual disability.
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Science Direct. · March 11, 2024
Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group.
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Applied Clinical Informatics. · March 6, 2024
Examining the Generalizability of Pretrained De-identification Transformer Models on Narrative Nursing Notes.
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JAMA Surgery. · March 6, 2024
Tumor-Associated Lymphocytes and Breast Cancer Survival in Black and White Women.
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Nature Aging. · February 21, 2024
Leveraging electronic health records and knowledge networks for Alzheimer’s disease prediction and sex-specific biological insights.
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Nature Biotechnology. · February 9, 2024
Simultaneous single-cell analysis of 5mC and 5hmC with SIMPLE-seq.
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Annals of the American Thoracic Society. · February 8, 2024
Peripheral Blood Mononuclear Cell Gene Expression Associated with Pulmonary Microvascular Perfusion: The Multi-Ethnic Study of Atherosclerosis Chronic Obstructive Pulmonary Disease Study.
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Muscle & Nerve. · February 2, 2024
Identification of gene fusions associated with amyotrophic lateral sclerosis.