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
Centromere evolution in annual and perennial soybeans and its implication for hybridization in cultivated species

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Factors influencing inconclusive sex chromosomal aneuploidies results on non-invasive prenatal testing

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Concurrent L1 retrotransposition events promote reciprocal translocations in human tumorigenesis

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Genetic regulation across germline and somatic variation on the Y chromosome contributes to type 2 diabetes

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Altered Brain Structure in an ATRX ‐Deficient Mouse Model of Autism Spectrum Disorder

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Comprehensive repertoire of the chromosomal alteration and mutational signatures across 16 cancer types

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Insertional activity of human Alu and L1 retrotransposons is associated with DNA repair pathways and genome instability in cancer

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M18BP1 valency and a distributed interaction footprint determine epigenetic centromere specification in humans

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De Novo Variation in Autism by Sex and Diagnostic Status in 41,367 Parent-Child Trios

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Microtubule depolymerization at kinetochores restricts anaphase spindle elongation

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

article Full Text OpenAlex 3169 FWCI667.649

Mapping genomic loci implicates genes and synaptic biology in schizophrenia

article Full Text OpenAlex 2609 FWCI470.876

Accurate proteome-wide missense variant effect prediction with AlphaMissense

article Full Text OpenAlex 1808 FWCI585.2228

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

article Full Text OpenAlex 1174 FWCI373.8923

Rare coding variants in ten genes confer substantial risk for schizophrenia

article Full Text OpenAlex 832 FWCI147.7441

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

review Full Text OpenAlex 573 FWCI70.0604

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

review Full Text OpenAlex 546 FWCI102.543

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

article Full Text OpenAlex 546 FWCI98.7417

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

article Full Text OpenAlex 482 FWCI87.1471

Signatures of copy number alterations in human cancer

article Full Text OpenAlex 477 FWCI45.0088