专题：Genomic variations and chromosomal abnormalities

This cluster of papers focuses on genomic rearrangements and copy number variations in the human genome, exploring their role in various conditions such as neurodevelopmental disorders and cancer. The research covers topics such as structural variation, chromosomal aberrations, segmental duplications, and high-resolution mapping techniques.
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The complete sequence of a human genome

article Full Text OpenAlex 3315 FWCI667.2618

Mapping genomic loci implicates genes and synaptic biology in schizophrenia

article Full Text OpenAlex 2761 FWCI470.1366

Accurate proteome-wide missense variant effect prediction with AlphaMissense

article Full Text OpenAlex 2019 FWCI581.3059

A genomic mutational constraint map using variation in 76,156 human genomes

article Full Text OpenAlex 1322 FWCI375.1368

Rare coding variants in ten genes confer substantial risk for schizophrenia

article Full Text OpenAlex 883 FWCI147.6986

Rare coding variation provides insight into the genetic architecture and phenotypic context of autism

review Full Text OpenAlex 616 FWCI70.4102

A joint NCBI and EMBL-EBI transcript set for clinical genomics and research

article Full Text OpenAlex 592 FWCI98.6522

The Human Pangenome Project: a global resource to map genomic diversity

review Full Text OpenAlex 565 FWCI103.1279

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria

article Full Text OpenAlex 523 FWCI86.9035

Signatures of copy number alterations in human cancer

article Full Text OpenAlex 515 FWCI45.7466