Distribution and transmission of copy number variations of uncertain significance in 105 trios
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.2030
Abstract: The distribution and genetic characteristics of copy number variations (CNVs) remain unclear. Here, we investigated the distribution and transmission of CNVs of uncertain significance in fetuses. read more here.
Keywords: distribution transmission; number variations; uncertain significance; copy number ... See more keywords
Identification of rare copy number variations reveals PJA2, APCS, SYNPO, and TAC1 as novel candidate genes in Autism Spectrum Disorders
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.786
Abstract: There is a strong evidence for genetic factors as the main causes of Autism Spectrum Disorders (ASD). To date, hundreds of genes have been identified either by copy number variations (CNVs) and/or single nucleotide variations.… read more here.
Keywords: copy number; spectrum disorders; number variations; autism spectrum ... See more keywords
Influence of validating the parental origin on the clinical interpretation of fetal copy number variations in 141 core family cases
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.944
Abstract: The sources and variants types of the copy number variations (CNVs) in prenatal fetal, and the critical role of parental origin on the interpretation of fetal CNVs are unclear. read more here.
Keywords: parental origin; copy number; number variations; interpretation fetal ... See more keywords
Copy number variations analysis in a cohort of 47 fetuses and newborns with congenital diaphragmatic hernia
Sign Up to like & getrecommendations! Published in 2022 at "Prenatal Diagnosis"
DOI: 10.1002/pd.6268
Abstract: The congenital diaphragmatic hernia (CDH), characterized by malformation of the diaphragm and lung hypoplasia, is a common and severe birth defect that affects around 1 in 4000 live births. However, the etiology of most cases… read more here.
Keywords: cohort fetuses; diaphragmatic hernia; congenital diaphragmatic; number variations ... See more keywords
Copy number variations of SCN5A in Brugada syndrome.
Sign Up to like & getrecommendations! Published in 2018 at "Heart rhythm"
DOI: 10.1016/j.hrthm.2018.03.033
Abstract: BACKGROUND Loss-of-function mutations in SCN5A are associated in ∼20% of Brugada syndrome (BrS) patients. Copy number variations (CNVs) have been shown to be associated with several inherited arrhythmia syndromes. OBJECTIVE The purpose of this study… read more here.
Keywords: brs; copy number; brs probands; number variations ... See more keywords
Small copy-number variations involving genes of the FGF pathway in differences in sex development
Sign Up to like & getrecommendations! Published in 2017 at "Human Genome Variation"
DOI: 10.1038/hgv.2017.11
Abstract: Retrospective chromosome microarray analysis of 83 genes within the fibroblast growth factor signaling pathway in 52 patients with heterogeneous differences in sex development (DSD) revealed small copy-number variations (CNVs) in ~31% (n=26) of investigated genes.… read more here.
Keywords: small copy; copy number; genes fgf; sex development ... See more keywords
Identification of copy number variations among fetuses with ultrasound soft markers using next-generation sequencing
Sign Up to like & getrecommendations! Published in 2018 at "Scientific Reports"
DOI: 10.1038/s41598-018-26555-6
Abstract: A prospective analysis investigating the associations between pathogenic copy number variations (pCNVs) and ultrasound soft markers (USMs) in fetuses and evaluating the clinical value of copy number variation sequencing (CNV-seq) in such pregnancy studies was… read more here.
Keywords: ultrasound soft; soft markers; copy number; cnv seq ... See more keywords
CONY: A Bayesian procedure for detecting copy number variations from sequencing read depths
Sign Up to like & getrecommendations! Published in 2020 at "Scientific Reports"
DOI: 10.1038/s41598-020-64353-1
Abstract: Copy number variations (CNVs) are genomic structural mutations consisting of abnormal numbers of fragment copies. Next-generation sequencing of read-depth signals mirrors these variants. Some tools used to predict CNVs by depth have been published, but… read more here.
Keywords: cony; sequencing read; copy number; number variations ... See more keywords
Mapping of genome-wide copy number variations in the Iranian indigenous cattle using a dense SNP data set
Sign Up to like & getrecommendations! Published in 2017 at "Animal Production Science"
DOI: 10.1071/an16384
Abstract: The objective of this study was to present the first map of the copy number variations (CNVs) in Iranian indigenous cattle based on a high-density single nucleotide polymorphism (SNP) dataset. A total of 90 individuals… read more here.
Keywords: genome wide; copy number; indigenous cattle; number variations ... See more keywords
Genome-wide detection of copy-number variations in local cattle breeds
Sign Up to like & getrecommendations! Published in 2019 at "Animal Production Science"
DOI: 10.1071/an17603
Abstract: The aim of the present study was to identify copy-number variations (CNVs) in Cinisara (CIN) and Modicana (MOD) cattle breeds on the basis of signal intensity (logR ratio) and B allele frequency of each marker,… read more here.
Keywords: cattle breeds; cnvs; cin; copy number ... See more keywords
Genome wide copy number variations using Porcine 60K SNP Beadchip in Landlly pigs.
Sign Up to like & getrecommendations! Published in 2022 at "Animal biotechnology"
DOI: 10.1080/10495398.2022.2056047
Abstract: In the present study, Porcine 60K SNP genotype data from 69 Landlly pigs were used to explore Copy Number Variations (CNVs) across the autosomes. A total of 386 CNVs were identified using Hidden Markov Model… read more here.
Keywords: 60k snp; number variations; porcine 60k; copy number ... See more keywords