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.
最新文献
Long-Read HiFi Genome Sequencing Resolves Retrotransposon-Mediated Deletions in TANGO2 Deficiency Disorder

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A human specific CCG repeat in the RBFOX1 promoter is implicated in speech and autism

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Integrated transcriptomic and clinical analysis of autism spectrum disorder reveals structured heterogeneity and links Methyl‐CpG Binding Domain Protein 2 expression with symptom severity

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Opportunistic Screening of High-Risk Breast Cancer Variants in Hospital Biobank Setting

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Identification and structural characterisation of a novel mutation in the CNKSR2 gene associated with Houge-Type X-Linked Intellectual Developmental Disorder

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Toward the simultaneous detection of multiple diseases with a highly cost-effective cell-free DNA methylome test

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Cancer genome standards for long-read sequencing using cancer cell line mixtures

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Molecular dynamics of Brodmann Area 22 in development and autism

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DIANA: An integrated pipeline for analysis of long-read whole-genome sequencing data for molecular neuropathology

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SHANK3 and beta-synuclein are novel blood-based biomarkers for the Phelan-McDermid Syndrome: a pilot study

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近5年高被引文献
The complete sequence of a human genome

article Full Text OpenAlex 3244 FWCI666.6787

Mapping genomic loci implicates genes and synaptic biology in schizophrenia

article Full Text OpenAlex 2687 FWCI470.0062

Accurate proteome-wide missense variant effect prediction with AlphaMissense

article Full Text OpenAlex 1923 FWCI579.6382

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

article Full Text OpenAlex 1255 FWCI372.5609

Rare coding variants in ten genes confer substantial risk for schizophrenia

article Full Text OpenAlex 857 FWCI147.6453

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

review Full Text OpenAlex 596 FWCI70.4504

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

article Full Text OpenAlex 576 FWCI98.6163

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

review Full Text OpenAlex 555 FWCI102.7175

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

article Full Text OpenAlex 504 FWCI86.8794

Signatures of copy number alterations in human cancer

article Full Text OpenAlex 500 FWCI45.6623