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2521
YHSeqY3000 panel captures all founding lineages in the Chinese paternal genomic diversity database
Published 2025-01-01“…Objectives This study aimed to develop the highest-resolution Y-targeted sequencing panel, utilizing time-stamped, core phylogenetic informative mutations identified from high-coverage sequences in the YanHuang cohort. …”
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2522
Genetics : analysis of genes and genomes /
Published 2019Table of Contents: “…Genes, genomes and genetic analysis -- DNA structure and genetic variation -- Transmission genetics : the principle of segregation -- The chromosomal basis of inheritance -- Genetic linkage and chromosome mapping -- Human karyotypes and chromosome behavior -- The genetics of complex characters -- Genetics of the bacteria and their viruses -- Molecular organization of chromosomes and genomes -- DNA replication and sequencing -- Mutation, repair, and recombination -- Molecular biology of gene expression -- Molecular mechanisms of gene regulation -- Manipulating genes and genomes -- Genetic control of development -- The genetics of cancer -- Extranuclear inheritance -- Genetics of populations -- Human evolution.…”
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2523
Sternal perforation and bifid ribs
Published 2001-06-01“…One man had a bifid rib and the other a sternal perforation. Amplification and sequencing of mitochondrial DNA suggested they were maternally related. …”
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2524
Distinct expression profile reveals glia involvement in the trigeminal system attributing to post-traumatic headache
Published 2024-11-01“…Quantitative PCR was used to assess extent of mTBI pathology. RNA sequencing was performed to obtain transcriptomic profile of the trigeminal ganglion (TG), trigeminal nucleus caudalis (Sp5C) and periaqueductal gray (PAG) at 7 days post-TBI. …”
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2525
Molecular study of the status of Angiostrongylus cantonensis in rats in Haiti
Published 2024-01-01“…Parasite DNA was amplified using PCR targeting either the nematode ITS2 gene for rodent lung tissue or cox1 for isolated worms. Subsequent sequencing allowed parasite identification. A total of 70 rats were captured, i.e. 23 Rattus norvegicus and 47 Rattus rattus. …”
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2526
Spaced Seed Data Structures for De Novo Assembly
Published 2015-01-01“…De novo assembly of the genome of a species is essential in the absence of a reference genome sequence. Many scalable assembly algorithms use the de Bruijn graph (DBG) paradigm to reconstruct genomes, where a table of subsequences of a certain length is derived from the reads, and their overlaps are analyzed to assemble sequences. …”
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2527
Detection and Whole-Genome Characteristics of <i>Bordetella trematum</i> Isolated from Captive Snakes
Published 2025-01-01“…AMR was assessed using the microbroth dilution method, while whole-genome sequencing was performed on the Illumina NextSeq platform. …”
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2528
Multiomic quantification of the KRAS mutation dosage improves the preoperative prediction of survival and recurrence in patients with pancreatic ductal adenocarcinoma
Published 2025-01-01“…RNA, whole-exome, and KRAS-targeted sequencing data were used to estimate the dosage of the KRAS G12 mutant. …”
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2529
Testing the Purity of <i>Limnospira fusiformis</i> Cultures After Axenicity Treatments
Published 2025-01-01“…Contaminants are robust taxa, as they survived aggressive treatments. Sequencing data suggest that some of them are promising candidates for in-depth studies to commercially exploit them.…”
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2530
Optimizing the NGS-based discrimination of multiple lung cancers from the perspective of evolution
Published 2025-01-01“…Whole-exome sequencing (WES) data from 80 lung cancer samples were utilized to simulate MPLC and IPM, with various sequenced panels constructed through gene subsampling. …”
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2531
Study on Management of Blood Transfusion Therapy in Patients with Hereditary Spherocytosis
Published 2022-01-01“…DNA from all family members of the 3 HS probands was amplified by polymerase chain reaction (PCR) and sequenced by the Sanger method to assess genetic relation for HS. …”
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2532
Mutational Analysis of a Familial Adenomatous Polyposis Pedigree with Bile Duct Polyp Phenotype
Published 2021-01-01“…We used next-generation sequencing (NGS) and capture techniques to screen suspected mutation points in the proband in this pedigree. …”
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2533
Molecular Sex Identification in the Hardy Rubber Tree (Eucommia ulmoides Oliver) via ddRAD Markers
Published 2020-01-01“…Subsequent PCR (polymerase chain reaction) amplification and Sanger sequencing examinations were performed on another 24 individuals, 12 for each sex, from a separate population. …”
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2534
AdipoR1 enhances the radiation resistance via ESR1/CCNB1IP1/cyclin B1 pathway in hepatocellular carcinoma cells
Published 2025-01-01“…To explore the mechanism, we performed high-throughput transcriptome sequencing of hepatocellular carcinoma cells with stable knockdown of AdipoR1. …”
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2535
COVID-19 in patients presenting with malaria-like symptoms at a primary healthcare facility in Accra, Ghana.
Published 2024-01-01“…SARS-CoV-2 whole genome sequencing was performed using MinIon sequencing.<h4>Results</h4>The prevalence of malaria by microscopy, RDT and nested PCR were 2.3%, 2.3% and 2.7% respectively. …”
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2536
The Study of Viral RNA Diversity in Bird Samples Using De Novo Designed Multiplex Genus-Specific Primer Panels
Published 2018-01-01“…On the other hand, sequencing the entire genome is still expensive and has relatively low sensitivity for such applications. …”
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2537
"The COVID-19 pandemic in BRICS: Milestones, interventions, and molecular epidemiology".
Published 2024-01-01“…Improvements in BRICS sequencing and data generation turnaround time facilitated quicker detection of circulating and emerging variants, supported by investments in sequencing and bioinformatic infrastructure. …”
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2538
Clostridium tetani bacteraemia in the plague area in France: Two cases
Published 2025-01-01“…Colonies were identified by mass spectrometry and whole genome sequencing, and C. tetani-specific PCR was performed using DNA extracted from dental pulps, calculus and sediments. …”
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2539
X-Linked Autism Type 9 Caused by a Hemizygote Pathogenic Variant in the TMLHE Gene: Etiological Diagnosis in an Adult Male with Moderate Intellectual Disability
Published 2025-01-01“…To prevent regressive autistic episodes in young children, it is highly recommended to consider next-generation sequencing techniques as the first step in the differential diagnostic process of autism.Keywords: epsilon-trimethyllysine hydroxylase gene, TMLHE, levocarnitine, autism, intellectual disability, contextual neuropsychology, psychopathology…”
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2540
First Report of CTNS Mutations in a Chinese Family with Infantile Cystinosis
Published 2015-01-01“…In this paper, by using the whole exome sequencing and Sanger sequencing, we identified two novel CTNS splicing deletions in a Chinese IC family, one at the donor site of exon 6 of CTNS (IVS6+1, del G) and the other at the acceptor site of exon 8 (IVS8-1, del GT). …”
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