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Incorporating CNV analysis improves the yield of exome sequencing for rare monogenic disorders—an important consideration for resource-constrained settings
Exome sequencing (ES) is a recommended first-tier diagnostic test for many rare monogenic
diseases. It allows for the detection of both single-nucleotide variants (SNVs) and copy …
diseases. It allows for the detection of both single-nucleotide variants (SNVs) and copy …
Ethnic and functional differentiation of copy number polymorphisms in Tunisian and HapMap population unveils insights on genome organizational plasticity
Admixture map** has been useful in identifying genetic variations linked to phenotypes,
adaptation and diseases. Copy number variations (CNVs) represents genomic structural …
adaptation and diseases. Copy number variations (CNVs) represents genomic structural …
High levels of genetic diversity within Nilo-Saharan populations: implications for human adaptation
Africa contains more human genetic variation than any other continent, but the majority of
the population-scale analyses of the African peoples have focused on just two of the four …
the population-scale analyses of the African peoples have focused on just two of the four …
Genomewide association study identifies copy number variants associated with warfarin dose response and risk of venous thromboembolism in African Americans
H Zhang, C Alarcon, LH Cavallari… - Clinical …, 2023 - Wiley Online Library
The anticoagulant warfarin is commonly used to control and prevent thrombotic disorders,
such as venous thromboembolism (VTE), which disproportionately afflicts African …
such as venous thromboembolism (VTE), which disproportionately afflicts African …
Genome-wide copy number variations in a large cohort of bantu African children
Abstract Background Copy number variations (CNVs) account for a substantial proportion of
inter-individual genomic variation. However, a majority of genomic variation studies have …
inter-individual genomic variation. However, a majority of genomic variation studies have …
Copy number variants differ in frequency across genetic ancestry groups
LM Schultz, A Knighton, G Huguet, Z Saci… - medRxiv, 2024 - medrxiv.org
Copy number variants (CNVs), which are duplicated or deleted genomic segments larger
than 1000 base pairs, have been implicated in a variety of neuropsychiatric and cognitive …
than 1000 base pairs, have been implicated in a variety of neuropsychiatric and cognitive …
Genome-wide analysis of copy number variants and normal facial variation in a large cohort of Bantu Africans
Similarity in facial characteristics between relatives suggests a strong genetic component
underlies facial variation. While there have been numerous studies of the genetics of facial …
underlies facial variation. While there have been numerous studies of the genetics of facial …
Map** Epigenetic Gene Variant Dynamics: Comparative Analysis of Frequency, Functional Impact and Trait Associations in African and European Populations
Epigenetic modifications influence gene expression levels, impact organismal traits, and
play a role in the development of diseases. Therefore, variants in genes involved in …
play a role in the development of diseases. Therefore, variants in genes involved in …
An assessment of the genomic structural variation landscape in Sub-Saharan African populations
Structural variants are responsible for a large part of genomic variation between individuals
and play a role in both common and rare diseases. Databases cataloguing structural …
and play a role in both common and rare diseases. Databases cataloguing structural …
Genome-wide Copy Number Variations in a Large Cohort of Bantu African Children
Abstract Background Copy number variations (CNVs) account for a substantial proportion of
inter-individual genomic variation. However, a majority of genomic variation studies have …
inter-individual genomic variation. However, a majority of genomic variation studies have …