Genetics

MVP predicts the pathogenicity of missense variants by deep learning.

‘There and back again’-forward genetics and reverse phenotyping in pulmonary arterial hypertension.

Homozygous deletions implicate non-coding epigenetic marks in autism spectrum disorder.

Cross-species regulatory sequence activity prediction.

Accuracy of short tandem repeats genotyping tools in whole exome sequencing data.

Genomic analyses implicate noncoding de novo variants in congenital heart disease.

Subcortical brain alterations in carriers of genomic copy number variants.

Transcriptomic convergence and the female protective effect in autism.

Comparison of autism domains across thirty rare variant genotypes.

m6A-mRNA reader YTHDF2 identified as a potential risk gene in autism with disproportionate megalencephaly.

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