[PDF] Top 20 Genotyping of fanconi anemia patients by whole exome sequencing: advantages and challenges.
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Genotyping of fanconi anemia patients by whole exome sequencing: advantages and challenges.
... those patients do not carry additional large insertions or deletions, which would have been difficult to identify by ...case of large and complex variations this technical drawback can, ... See full document
10
Whole genome and exome sequencing of monozygotic twins with trisomy 21, discordant for a congenital heart defect and epilepsy.
... 40% of patients with trisomy 21, while the other 60% have a structurally normal ...dosage of genes on chromosome 21 is a risk factor for abnormal heart ...Interaction of genes on chromosome 21 ... See full document
7
Somatic mutation profiles of MSI and MSS colorectal cancer identified by whole exome next generation sequencing and bioinformatics analysis.
... marker of MMR. In addition, survival advantages and therapeutic consequences have been reported for patients with MSI tumors ...ultradeep sequencing of one conserved region, ... See full document
10
Whole genome SNP genotyping and exome sequencing reveal novel genetic variants and putative causative genes in congenital hyperinsulinism.
... that exome sequencing is useful as a diagnostic tool for CHI because identifies mutations in known genes but also gives the opportunity to discover potential damaging mutations affecting several genes ... See full document
10
Exome sequencing identifies a novel mutation of the GDI1 gene in a Chinese
... Diagnosis of XLID, especially for non-syndromic ones (NS-XLID), is often hampered by the heterogeneity of this ...case of a Chinese family in which three males suffer from intellectual ... See full document
6
Application of genotyping-by-sequencing on semiconductor sequencing platforms: a comparison of genetic and reference-based marker ordering in barley.
... calling and mapping pipelines in the barley datasets; TASSEL and SAMtools (Dataset ...more of these SNPs remained after filtering for minor allele frequency (MAF) and proportion present (Table ... See full document
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Whole genome sequencing versus traditional genotyping for investigation of a Mycobacterium tuberculosis outbreak: a longitudinal molecular epidemiological study.
... revealed by our WGS-based analysis was that the Hamburg clone caused an increased number of cases, including several clusters, compared to the other clones, indicating more effective transmission over a ... See full document
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Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients.
... Mb of the CCDS database) (Agilent Technologies, Santa Clara, CA) from 3 m g of genomic DNA, using the protocol provided by the ...parallel sequencing (100 bp paired- end reads) on the Illumina ... See full document
8
Whole-exome sequencing identifies a novel genotype-phenotype correlation in the entactin domain of the known deafness gene TECTA.
... audiograms of four affected individuals showed bilateral, moderate, symmetrical, and stable sensorineural hearing loss, most significantly that involving high frequencies ...levels of hearing ... See full document
8
Lessons learned from whole exome sequencing in multiplex families affected by a complex genetic disorder, intracranial aneurysm.
... preparation, and sequencing was conducted at the University Medical Center Groningen in Groningen, the ...extracted and purified using an RNeasy microkit (Qiagen, Valencia, CA, USA) according to the ... See full document
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Diagnóstico genético de duas famílias com casos de Acidose tubularrenal distal por meio de Whole-Exome Sequencing
... characterized by metabolic acidosis due to renal impaired acid ...gap and normal or minimally affected glomerular filtration rate defines this dis- ...nephrocalcinosis and nephrolitiasis, as well as ... See full document
81
Correction: A Next-Generation Sequencing Method for Genotyping-by-Sequencing of Highly Heterozygous Autotetraploid Potato.
... Uitdewilligen JGAML, Wolters A-MA, D’hoop BB, Borm TJA, Visser RGF, van Eck HJ (2013) A Next- Generation Sequencing Method for Genotyping-by-Sequencing of Highly Heterozygous Autotetrapl[r] ... See full document
1
FANCD2 Western blot as a diagnostic tool for Brazilian patients with Fanconi anemia
... Fanconi anemia is a rare hereditary disease showing genetic heterogeneity due to a variety of mutations in genes involved in DNA repair pathways, which may lead to different clinical ...pathogenesis ... See full document
7
Identification of variants in primary and recurrent glioblastoma using a cancer-specific gene panel and whole exome sequencing.
... Deep sequencing methodologies have revolutionized many biological and biomedical fields with cancer, particularly diagnostics and treatment strategies, being one of the most impacted [20, ... See full document
10
Identification of Novel Variants in LTBP2 and PXDN Using Whole-Exome Sequencing in Developmental and Congenital Glaucoma.
... meshwork and ciliary processes involved in the regulation and production of the aqueous ...repair and cell adhesion ...families and patients from Pakistan and Gypsies ... See full document
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RGO, Rev. Gaúch. Odontol. vol.62 número3
... A Anemia de Fanconi é uma desordem genética recessiva e rara caracterizada por uma instabilidade cromossômica que induz a alterações congênitas nos ...indivíduos. Anemia aplásica pela falência ... See full document
8
Reconstructing Native American migrations from whole-genome and whole-exome data.
... cluster of ancestry for the European component dominant in PUR, CLM, MXL, and Andean populations, but not in CEU, Eskimo-Aleut, and Na- ...IBD and ancestry can be used to date Figure ...(a) ... See full document
14
Common contaminants in next-generation sequencing that hinder discovery of low-abundance microbes.
... number of whole genome shotgun sequencing libraries processed at different sequencing centers by a standardized protocol and not expected to contain etiologic microbes or be ... See full document
8
Frequencies of X-ray induced chromosome aberrations in lymphocytes of xeroderma pigmentosum and Fanconi anemia patients estimated by Giemsa and fluorescence in situ hybridization staining techniques
... rings and acentric fragments) or stable (various kinds of translocations) (Natarajan et ...frequencies of structurally aberrant chro- mosomes in peripheral lymphocytes of persons acciden- ... See full document
8
Improvement of ENU Mutagenesis Efficiency Using Serial Injection and Mismatch Repair Deficiency Mice.
... wild-type and Msh6 +/- background were alterations of A-T base pairs, with Msh6 +/- having a higher ratio of A-T tran- ...rats and the Msh2-deficient mice [16, 18] where they also observed a ... See full document
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