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Structural variant

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Structural variation of the malariaassociated human glycophorin A-B-E region

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Fibre-FISH analysis of structural variants. Sequence read depth analysis shows copy number gain and loss with respect to the reference genome to which the sequence reads are mapped, but it does not deter- mine the physical structure of the structural variant.

De novo ZIC2 frameshift variant associated with frontonasal dysplasia in a Limousin calf

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In order to identify private genetic and structural variants, we screened whole genome sequencing data of the affected calf and unaffected relatives including parents, a maternal and paternal halfsibling.. A defect centrally in the front skull covered with a membrane extended into the intracranial cavity. Filtering whole genome sequencing data revealed a private frameshift variant within the candidate gene ZIC2 in the affected calf.

NanotatoR: A tool for enhanced annotation of genomic structural variants

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The database of genomic variants: a curated collection of structural variation in the human genome

Structural variations in papaya genomes

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solo cultivated population. two cultivated populations have similar distributions of copy number variant genes, which are concentrated in the middle and both ends of chromosomes like other structural variants, such as chr1, chr2, chr4, chr8, and chr9.

The effects of common structural variants on 3D chromatin structure

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We hypothesize that common structural variation (SV) in the human population can disrupt regulatory sequences and thereby influence TAD formation.

Single-molecule analysis of subtelomeres and telomeres in Alternative Lengthening of Telomeres (ALT) cells

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The top U2OS molecule shows a structural variant of the 9p end with an end telomere. The bottom two U2OS molecules show the same structural variant of the 9p end following recombination resulting in two distinct partner fragments, with retention of ITSs in both cases. Likewise the top 7q SK-MEL-2 molecule has an end telomere while the bottom two show recombinants with ITS retention.

Luận án Tiến sĩ Sinh học: Nghiên cứu đa hình đột biến gen CYP2C9, CYP2C19, CYP3A5 VÀ CYP2D6 cytochrome P450 ở người Kinh Việt Nam

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CNV Copy number variant Biến thể số bản sao. Indel Insertion/deletion Biến thể thêm/mất. SV Structural variant Biến thể cấu trúc. Các biến thể của CYP2C9 trong quần thể người Kinh Việt Nam. Các biến thể của CYP2C19 trong quần thể người Kinh Việt Nam. Biến thể của CYP2D6 trong quần thể người Kinh Việt Nam xác định bằng phương pháp giải trình tự. So sánh tần số các biến thể CYP2C9 trong nghiên cứu này với các quần thể khác trên thế giới.

Luận án Tiến sĩ Sinh học: Nghiên cứu đa hình/đột biến gen CYP2C9, CYP2C19, CYP3A5 và CYP2D6 cytochrome ở người Kinh Việt Nam

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CNV Copy number variant Biến thể số bản sao. Indel Insertion/deletion Biến thể thêm/mất. SV Structural variant Biến thể cấu trúc. Các biến thể của CYP2C9 trong quần thể người Kinh Việt Nam. Các biến thể của CYP2C19 trong quần thể người Kinh Việt Nam. Biến thể của CYP2D6 trong quần thể người Kinh Việt Nam xác định bằng phương pháp giải trình tự. So sánh tần số các biến thể CYP2C9 trong nghiên cứu này với các quần thể khác trên thế giới.

Whole genome sequencing identified a 16 kilobase deletion on ECA13 associated with distichiasis in Friesian horses

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This variant was later confirmed as the only structural variant in the ECA13 associated haplotype using LUMPY.. Sanger sequencing of the deletion in two cases and two controls identified the boundaries to occur at ECA13:g del.

Using short read sequencing to characterise balanced reciprocal translocations in pigs

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The DNA material of the RT carriers was sequenced at 30 fold coverage and screened for inter-chromosomal breakpoints using the structural variant caller DELLY.. c Graphical representation of the double stranded break and connection type, and the derived chromosomes (der). d The sequence of the derived chromosomes at the junction.

Whole-genome genotyping and resequencing reveal the association of a deletion in the complex interferon alpha gene cluster with hypothyroidism in dogs

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We also detected an association of an evolutionarily conserved SNP with protection against development of hypothyroidism and its high linkage to the candidate structural variant, which makes it extremely arduous to bridge the gap between genetic association and the reve- lation of the actual causative functional variation(s)..

Promising prospects of nanopore sequencing for algal hologenomics and structural variation discovery

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Resequencing of the nuclear genome at higher coverage than presently available (Table 2) will allow the characterization of SNPs and eventual (chromosome-scale) structural variants to gain further insights into C.

A new method for long-read sequencing of animal mitochondrial genomes: Application to the identification of equine mitochondrial DNA variants

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The principal caveat of the current mtDNA sequencing methods is that raw se- quences enable to read only a tiny portion of the DNA at a time, preventing definitive evidence for long-range phasing or structural variant identification.. These reports testify the use- fulness of the Nanopore technology to sequence mito- chondrial genomes, but the corresponding protocols are not tailored to identify mtDNA variants on a large-scale..

Assessing graph-based read mappers against a baseline approach highlights strengths and weaknesses of current methods

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A graph-based structural variant genotyper for short-read sequence data.. Graph Peak Caller: calling ChIP-Seq Peaks on Graph-based Reference Genomes.

Ancestry-specific associations identified in genome-wide combined-phenotype study of red blood cell traits emphasize benefits of diversity in genomics

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Finally, in an attempt to examine the influence of the previously identified 3.7 kb structural variant esv3637548 in the HBA1/2 region of chromosome 16, we also ad- justed for esv3637548 dosage (r 2 = 0.86) in the MEGA- genotyped subgroup [28]. The duplication was not able to be imputed, and the deletion only met im- putation quality criteria in the MEGA-genotyped study population, hence esv3637548 could not be evaluated within the entire study population in which this variant may be present.

Mitochondrial genomes of the early land plant lineage liverworts (Marchantiophyta): Conserved genome structure, and ongoing low frequency recombination

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Liverwort mt genomes are strictly syntenous in genome structure with no structural variant detected in our newly assembled mt genomes. Our phylogenetic analyses of the nuclear encoded double stand break repair protein families revealed liverwort-specific subfamilies expansions.. Conclusions: The low repeat recombination level, selection, along with the intensified nuclear surveillance, might together shape the structural evolution of liverwort mt genomes..

Chromosome-length genome assembly and structural variations of the primal Basenji dog (Canis lupus familiaris) genome

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Chromosome-length genome assembly and structural variations of the primal Basenji dog ( Canis lupus familiaris ) genome. CanFam_Bas is superior to CanFam3.1 in terms of genome contiguity and comparable overall to the high quality CanFam_GSD assembly. The basal position of the Basenji makes it suitable for variant analysis for targeted applications of specific dog breeds. Full list of author information is available at the end of the article.

The effect of variant interference on de novo assembly for viral deep sequencing

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Effect of variant assembly using popular de novo assemblers.

Giáo Trình Robot Structural Tập 2

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GióYphải(GIO YY) CÁC TRƯỜNG HỢP TẢI TRỌNG Giáo trình Robot Structural 2016-Tập 2Nguyễn Hoàng AnhCompany: www.Huytraining.vn 21 ▪ tĩnhtải(TT.

Giáo trình Robot Structural Tập 1.pdf

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Structural–Tập 1 Nguyễn Hoàng AnhCompany: www.Huytraining.com 62 PTPT UỐN-BENDING(MY,MZ