New insights into genetic variant spectrum and genotype–phenotype

Distinguishing between PTEN clinical phenotypes through mutation analysis - Computational and Structural Biotechnology Journal

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The human splicing code reveals new insights into the genetic determinants of disease

Advancing diagnosis and management of liver disease in adults through exome sequencing - eBioMedicine

Association between genetic predisposition and disease burden of stroke in China: a genetic epidemiological study - The Lancet Regional Health – Western Pacific

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Recent insights into the genotype–phenotype relationship from massively parallel genetic assays - Kemble - 2019 - Evolutionary Applications - Wiley Online Library

Genome-wide analyses of individual differences in quantitatively assessed reading- and language-related skills in up to 34,000 people

Large-scale study enables new insights into rare eye disorders

Genetic associations of protein-coding variants in human disease

Machine learning enables new insights into genetic contributions to liver fat accumulation - ScienceDirect