[PDF] Top 20 CNVkit: Genome-Wide Copy Number Detection and Visualization from Targeted DNA Sequencing.
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CNVkit: Genome-Wide Copy Number Detection and Visualization from Targeted DNA Sequencing.
... Germline copy number variants (CNVs) and somatic copy number alterations (SCNAs) are of significant importance in syndromic conditions and ...infer copy number ... See full document
18
Identifying Human Genome-Wide CNV, LOH and UPD by Targeted Sequencing of Selected Regions.
... (LOH), and uniparental disomy (UPD) are large genomic aberrations leading to many common inherited diseases, cancers, and other complex ...diseases and in designing clinical ...whole-genome ... See full document
18
Copy number variation of individual cattle genomes using next-generation sequencing
... Holstein) and one indicine (Nelore) cattle (Supple- mental Table ...descent, and named its result as ...varied from 43 (Hereford and Holstein) to nearly 203 (Angus and Nelore) coverage, ... See full document
14
DNA extraction, PCR, and DNA sequencing
... distributed and have economic importance as they cause damage to at least 14 plant families, especially Solanaceae, Cucurbitaceae, Asteraceae, and ...Blanchard and L. huidobrensis (Blanchard). The ... See full document
9
Genome-wide detection of selective signature in Chinese Holstein.
... FABP3 and ABCE1 ...LAP3 and ABCG2. These two researches revealed that most of genes targeted by artificial selection in dairy cattle mainly tended to improve milk production ...signatures and ... See full document
9
Evaluation of Nine Somatic Variant Callers for Detection of Somatic Mutations in Exome and Targeted Deep Sequencing Data.
... generation sequencing is extensively applied to catalogue somatic mutations in can- cer, in research settings and increasingly in clinical settings for molecular diagnostics, guid- ing therapy ...of ... See full document
15
Characterization of the small RNA content of Trypanosoma cruzi extracellular vesicles
... molecules and performed a deep sequencing and genome-wide analysis of a size-fractioned cDNA library (16–40 nt) from extracellular vesicles secreted by noninfective epimastigote ... See full document
4
Reconstructing Roma history from genome-wide data.
... sampled from four countries in Europe from Hungary (3 linguistically and culturally separated sub-groups: 7 samples from Olah (Vlah), 4 samples from Beas (Boyash) and 4 samples ... See full document
11
Genome-wide DNA methylation patterns and transcription analysis in sheep muscle.
... growth and development in mammals through regulating gene ...generation sequencing technologies have paved the way for genome-wide, high resolution analysis of DNA methylation ... See full document
7
Common contaminants in next-generation sequencing that hinder discovery of low-abundance microbes.
... 1000 Genome Project ...called and $ 50% of the 32 base substrings in each read contained only bases deemed correctly ...compared and deemed nearly identical if $57 bases matched) were deemed to be ... See full document
8
Molecular subsets in the gene expression signatures of scleroderma skin.
... 2-fold from their median value on at least two microarrays were selected from 75 microarray hybrid- izations representing 61 ...Probes and microarrays were ordered by 2-dimensional average linkage ... See full document
19
Alterações epigenéticas e do número de cópias do gene SFN em carcinomas mamários
... breast and breast cancer cell lines to characterize SFN copy number, DNA methylation and mRNA ...proposal. Copy number alterations were detected in 55% of the cell lines ... See full document
104
Genome-wide linkage, exome sequencing and functional analyses identify ABCB6 as the pathogenic gene of dyschromatosis universalis hereditaria.
... exons and exon-intron boundaries of ABCB6 in other four DUH pedigrees and two sporadic cases of Chinese ethnicity by Sanger ...individuals and absent in all the seven unaffected members (Figure ... See full document
9
Castor bean organelle genome sequencing and worldwide genetic diversity analysis.
... analyses and stringent criteria (see Methods), 112 SNPs were identified (Table ...discarded and 29 were not covered in all seven chloroplast genome ...all genome assemblies except that of the ... See full document
9
Evaluation of whole genome sequencing for outbreak detection of Salmonella enterica.
... SNP and ND trees were equally superior methods for clustering outbreak related isolates of ...reference genome and this has to be closely related to the strains investigated for example the reference ... See full document
11
Comprehensive Analysis of Disease-Related Genes in Chronic Lymphocytic Leukemia by Multiplex PCR-Based Next Generation Sequencing.
... [41]. Targeted NGS studies in CLL published to date frequently omitted sequencing of ATM, due to the lack of hotspots regions in this relatively large gene and size limitations of their assay [13, ... See full document
17
Next-generation sequence analysis of cancer xenograft models.
... Next-generation sequencing (NGS) studies in cancer are limited by the amount, quality and purity of tissue ...diagnosed from small biopsy or needle aspirate ...data from primary xenograft ... See full document
12
DNA extraction, amplification and sequencing
... L-INS–i and G-INS-i criteria (for nrITS and nrLSU, ...ITS and 841 bp for ...ITS and 28S to determine whether there were any well-supported phylogenetic incongruencies between these two ... See full document
10
Genome-wide characterization of insertion and deletion variation in chicken using next generation sequencing.
... the number of INDELs identified in our study is the highest so far in ...this number is smaller than the results from Mills et ...[49], and if we note that the chicken genome is only ... See full document
11
Characterization of the complete mitochondrial genome and a set of polymorphic microsatellite markers through next-generation sequencing for the brown brocket deer Mazama gouazoubira
... deer and occurs in all biomes of Brazil (except the Amazon basin), the pre- Andean regions in Argentina and Bolivia, southern Peru, Paraguay and Uruguay (Black-Décima et ...relatively wide ... See full document
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