Articles with "snp array" as a keyword



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Modeling SNP array ascertainment with Approximate Bayesian Computation for demographic inference

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Published in 2018 at "Scientific Reports"

DOI: 10.1038/s41598-018-28539-y

Abstract: Single nucleotide polymorphisms (SNPs) in commercial arrays have often been discovered in a small number of samples from selected populations. This ascertainment skews patterns of nucleotide diversity and affects population genetic inferences. We propose a… read more here.

Keywords: snp array; demographic inference; bayesian computation; approximate bayesian ... See more keywords
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What Is the Clinical Utility of Repeat SNP Array Testing in the Follow-up of Myeloid Neoplasms?: A Retrospective Analysis of 44 Patients With Serial SNP Arrays

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Published in 2017 at "American Journal of Clinical Pathology"

DOI: 10.1093/ajcp/aqx003

Abstract: Objectives Single-nucleotide polymorphism (SNP) arrays have been shown to identify cytogenetic abnormalities in myeloid neoplasms that may be missed by metaphase cytogenetics alone at initial diagnosis. This study examines the utility of serial SNP arrays… read more here.

Keywords: snp array; myeloid neoplasms; snp arrays; serial snp ... See more keywords
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Deducing genotypes for loci of interest from SNP array data via haplotype sharing, demonstrated for apple and cherry

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Published in 2022 at "PLOS ONE"

DOI: 10.1101/2022.07.30.502127

Abstract: Breeders, collection curators, and other germplasm users require genetic information, both genome-wide and locus-specific, to effectively manage their genetically diverse plant material. SNP arrays have become the preferred platform to provide genome-wide genetic profiles for… read more here.

Keywords: snp array; apple; cherry; locus ... See more keywords
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SNP discovery and genetic structure in blue mussel species using low coverage sequencing and a medium density 60 K SNP‐array

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Published in 2023 at "Evolutionary Applications"

DOI: 10.1111/eva.13552

Abstract: Blue mussels from the genus Mytilus are an abundant component of the benthic community, found in the high latitude habitats. These foundation species are relevant to the aquaculture industry, with over 2 million tonnes produced… read more here.

Keywords: snp array; density snp; medium density; mussel ... See more keywords
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Optical Mapping, a Promising Alternative to Gold Standard Cytogenetic Approaches in Acute Lymphoblastic Leukemias: A Blind Comparison on 10 Patients

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Published in 2020 at "Blood"

DOI: 10.1182/blood-2020-136257

Abstract: Acute lymphoblastic leukemias (ALL) are characterized by a large number of genetic abnormalities of prognostic and theranostic interest. Their detection requires the use of several conventional and molecular cytogenetic techniques in order to establish the… read more here.

Keywords: standard techniques; snp array; mapping; operator ... See more keywords
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Large-scale deployment of a rice 6 K SNP array for genetics and breeding applications

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Published in 2017 at "Rice"

DOI: 10.1186/s12284-017-0181-2

Abstract: BackgroundFixed arrays of single nucleotide polymorphism (SNP) markers have advantages over reduced representation sequencing in their ease of data analysis, consistently higher call rates, and rapid turnaround times. A 6 K SNP array represents a cost-benefit… read more here.

Keywords: snp array; genetics; rice; snp markers ... See more keywords
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A systematic evaluation of copy number alterations detection methods on real SNP array and deep sequencing data

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Published in 2019 at "BMC Bioinformatics"

DOI: 10.1186/s12859-019-3266-7

Abstract: The Copy Number Alterations (CNAs) are discovered to be tightly associated with cancers, so accurately detecting them is one of the most important tasks in the cancer genomics. A series of CNAs detection methods have… read more here.

Keywords: cnas detection; sequencing data; detection methods; snp array ... See more keywords
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Assessing runs of Homozygosity: a comparison of SNP Array and whole genome sequence low coverage data

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Published in 2018 at "BMC Genomics"

DOI: 10.1186/s12864-018-4489-0

Abstract: BackgroundRuns of Homozygosity (ROH) are genomic regions where identical haplotypes are inherited from each parent. Since their first detection due to technological advances in the late 1990s, ROHs have been shedding light on human population… read more here.

Keywords: snp array; roh; low coverage; homozygosity ... See more keywords
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GCViT: a method for interactive, genome-wide visualization of resequencing and SNP array data

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Published in 2020 at "BMC Genomics"

DOI: 10.1186/s12864-020-07217-2

Abstract: Background Large genotyping datasets have become commonplace due to efficient, cheap methods for SNP identification. Typical genotyping datasets may have thousands to millions of data points per accession, across tens to thousands of accessions. There… read more here.

Keywords: array data; snp array; visualization; visualization resequencing ... See more keywords
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Prenatal diagnosis of cri-du-chat syndrome by SNP array: report of twelve cases and review of the literature

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Published in 2019 at "Molecular Cytogenetics"

DOI: 10.1186/s13039-019-0462-0

Abstract: BackgroundCri-du-chat syndrome (CdCS; OMIM#123450) is a classic contiguous gene syndrome caused by chromosome 5p terminal deletion (5p-), which characterized by a high-pitched cat-like cry, developmental delay, severe psychomotor, mental retardation, and dysmorphic features in infancy.… read more here.

Keywords: chat syndrome; diagnosis; snp array; cdcs ... See more keywords
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SNP Array as a Tool for Prenatal Diagnosis of Congenital Heart Disease Screened by Echocardiography: Implications for Precision Assessment of Fetal Prognosis

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Published in 2021 at "Risk Management and Healthcare Policy"

DOI: 10.2147/rmhp.s286001

Abstract: Objective This study aimed to examine the effectiveness of the SNP array for the prenatal diagnosis of congenital heart disease (CHD) screened by echocardiography. Patients and Methods A total of 356 pregnant women with fetal… read more here.

Keywords: array; prenatal diagnosis; snp array; congenital heart ... See more keywords