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Mechanisms underlying structural variant formation in genomic disorders
With the recent burst of technological developments in genomics, and the clinical
implementation of genome-wide assays, our understanding of the molecular basis of …
implementation of genome-wide assays, our understanding of the molecular basis of …
Mechanisms of structural chromosomal rearrangement formation
B Burssed, M Zamariolli, FT Bellucco… - Molecular …, 2022 - Springer
Structural chromosomal rearrangements result from different mechanisms of formation,
usually related to certain genomic architectural features that may lead to genetic instability …
usually related to certain genomic architectural features that may lead to genetic instability …
[HTML][HTML] Recurrent inversion polymorphisms in humans associate with genetic instability and genomic disorders
Unlike copy number variants (CNVs), inversions remain an underexplored genetic variation
class. By integrating multiple genomic technologies, we discover 729 inversions in 41 …
class. By integrating multiple genomic technologies, we discover 729 inversions in 41 …
Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects
Copy number variants (CNVs) have been strongly implicated in the genetic etiology of
schizophrenia (SCZ). However, genome-wide investigation of the contribution of CNV to risk …
schizophrenia (SCZ). However, genome-wide investigation of the contribution of CNV to risk …
Scrambling the genome in cancer: causes and consequences of complex chromosome rearrangements
Complex chromosome rearrangements, known as chromoanagenesis, are widespread in
cancer. Based on large-scale DNA sequencing of human tumours, the most frequent type of …
cancer. Based on large-scale DNA sequencing of human tumours, the most frequent type of …
Non-coding genetic variants in human disease
Genetic variants, including single-nucleotide variants (SNVs) and copy number variants
(CNVs), in the non-coding regions of the human genome can play an important role in …
(CNVs), in the non-coding regions of the human genome can play an important role in …
A copy number variation map of the human genome
A major contribution to the genome variability among individuals comes from deletions and
duplications—collectively termed copy number variations (CNVs)—which alter the diploid …
duplications—collectively termed copy number variations (CNVs)—which alter the diploid …
New insights into the generation and role of de novo mutations in health and disease
Aside from inheriting half of the genome of each of our parents, we are born with a small
number of novel mutations that occurred during gametogenesis and postzygotically. Recent …
number of novel mutations that occurred during gametogenesis and postzygotically. Recent …
DNA copy number variation: Main characteristics, evolutionary significance, and pathological aspects
Copy number variants (CNVs) were the subject of extensive research in the past years. They
are common features of the human genome that play an important role in evolution …
are common features of the human genome that play an important role in evolution …
Genetic variation, comparative genomics, and the diagnosis of disease
EE Eichler - New England Journal of Medicine, 2019 - Mass Medical Soc
Uncharted Regions of the Human Genome The genome is not akin to a string of fixed length.
Many large segments of DNA may be present or absent—a major contributor to pathogenic …
Many large segments of DNA may be present or absent—a major contributor to pathogenic …