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
A framework to infer de novo exonic variants when parental genotypes are missing enhances association studies of autism

preprint Full Text OpenAlex

Parent-of-origin effects on complex traits in up to 236,781 individuals

article Full Text OpenAlex

Excised DNA circles from V(D)J recombination promote relapsed leukaemia

article Full Text OpenAlex

International Society for Prenatal Diagnosis 2024 Debate 3—Cytogenetics Is a Dinosaur and Should Be Replaced by Molecular Technologies

review Full Text OpenAlex

Long Read Genome Sequencing Elucidates Diverse Functional Consequences of Structural and Repeat Variation in Autism

preprint Full Text OpenAlex

Complex genetic variation in nearly complete human genomes

article Full Text OpenAlex

Multiplexed assays of variant effect for clinical variant interpretation

review Full Text OpenAlex

Enhancer adoption by an LTR retrotransposon generates viral-like particles, causing developmental limb phenotypes

article Full Text OpenAlex

Evolution of dosage-sensitive genes by tissue-restricted expression changes

article Full Text OpenAlex

Longitudinal Insights Into Polydactyly‐Macrocephaly Syndrome: A Case Report of an Adult With a Recurrent MAX Variant

article Full Text OpenAlex

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

article Full Text OpenAlex 2357 FWCI325.284

Mapping genomic loci implicates genes and synaptic biology in schizophrenia

article Full Text OpenAlex 2009 FWCI344.39

Accurate proteome-wide missense variant effect prediction with AlphaMissense

article Full Text OpenAlex 1083 FWCI306.633

Exome sequencing and analysis of 454,787 UK Biobank participants

article Full Text OpenAlex 760 FWCI88.39

Rare coding variants in ten genes confer substantial risk for schizophrenia

article Full Text OpenAlex 684 FWCI116.36

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

article Full Text OpenAlex 675 FWCI191.609

Haplotype-resolved diverse human genomes and integrated analysis of structural variation

article Full Text OpenAlex 573 FWCI69.509

Variant interpretation using population databases: Lessons from gnomAD

review Full Text OpenAlex 442 FWCI14.591

An expanded set of genome-wide association studies of brain imaging phenotypes in UK Biobank

article Full Text OpenAlex 432 FWCI49.37

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

review Full Text OpenAlex 407 FWCI18.573