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Human whole genome sequencing

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https://www.readbyqxmd.com/read/29779058/genetics-of-resistant-hypertension-the-missing-heritability-and-opportunities
#1
REVIEW
Samantha K Teixeira, Alexandre C Pereira, Jose E Krieger
PURPOSE OF THE REVIEW: Blood pressure regulation in humans has long been known to be a genetically determined trait. The identification of causal genetic modulators for this trait has been unfulfilling at the least. Despite the recent advances of genome-wide genetic studies, loci associated with hypertension or blood pressure still explain a very low percentage of the overall variation of blood pressure in the general population. This has precluded the translation of discoveries in the genetics of human hypertension to clinical use...
May 19, 2018: Current Hypertension Reports
https://www.readbyqxmd.com/read/29776392/molecular-identification-of-tick-borne-pathogens-in-asymptomatic-individuals-with-human-immunodeficiency-virus-type-1-hiv-1-infection-a-retrospective-study
#2
Renata Welc-Falęciak, Justyna D Kowalska, Małgorzata Bednarska, Magdalena Szatan, Agnieszka Pawełczyk
BACKGROUND: The studies on the occurrence and diversity of tick-borne infections in HIV-infected individuals have been few, and the subject has been relatively neglected when compared with other common infections associated with HIV. In HIV-positive patients in whom a serological diagnostics is complicated due to reduced positive predictive value, a method where the microorganism is detected directly is of great value. Therefore, we performed a molecular study to ascertain the prevalence and incidence of tick-borne infections in HIV-infected persons in Poland, an endemic area for Ixodes ricinus ticks...
May 18, 2018: BMC Infectious Diseases
https://www.readbyqxmd.com/read/29775788/complete-genome-sequence-of-achromobacter-spanius-type-strain-dsm-23806t-a-pathogen-isolated-from-human-blood
#3
Gengmi Li, Li Yang, Tao Zhang, Xiaojiao Guo, Jian Qin, Yingjiang Cao, Qianhua Yang, Shumei You, Guoliang Yuan, Xianqi Wan, Jing Luo, Zhaoxiang Li, Lei Gao, Ying Liu, Kaifeng Jiang, Jiakui Zheng
OBJECTIVES: Achromobacter spanius is a new described, non-fermenting Gram-negative and coccoid pathogen that isolated from patient blood. In order to investigate the pathogenesis of this strain in genomic level, whole genome sequencing was carried out on this strain. METHODS: In this study, complete genome of the type strain of this species DSM 23806T was sequenced using single-molecule real-time (SMRT) DNA sequencing. RESULTS: Complete genome of DSM 23806T consists of one circular DNA chromosome of 6,425,783bp with a GC content of 64...
May 15, 2018: Journal of Global Antimicrobial Resistance
https://www.readbyqxmd.com/read/29775755/whole-genome-sequencing-and-bioinformatics-analysis-of-two-egyptian-genomes
#4
Mahmoud ElHefnawi, Sungwon Jeon, Youngjune Bhak, Asmaa ElFiky, Ahmed Horaiz, JeHoon Jun, Hyunho Kim, Jong Bhak
We report two Egyptian male genomes (EGP1 and EGP2) sequenced at ~ 30× sequencing depths. EGP1 had 4.7 million variants, where 198,877 were novel variants while EGP2 had 209,109 novel variants out of 4.8 million variants. The mitochondrial haplogroup of the two individuals were identified to be H7b1 and L2a1c, respectively. We also identified the Y haplogroup of EGP1 (R1b) and EGP2 (J1a2a1a2 > P58 > FGC11). EGP1 had a mutation in the NADH gene of the mitochondrial genome ND4 (m.11778 G > A) that causes Leber's hereditary optic neuropathy...
May 15, 2018: Gene
https://www.readbyqxmd.com/read/29775428/the-involvement-of-human-monogenic-cardiomyopathy-genes-in-experimental-polygenic-cardiac-hypertrophy
#5
Priscilla R Prestes, Francine Z Marques, Guillermo Lopez-Campos, Paul Lewandowski, Lea M D Delbridge, Fadi J Charchar, Stephen B Harrap
Hypertrophic cardiomyopathy thickens heart muscles reducing functionality and increasing risk of cardiac disease and morbidity. Genetic factors are involved, but their contribution is poorly understood. We used the hypertrophic heart rat (HHR), a unique normotensive polygenic model of cardiac hypertrophy and heart failure to investigate the role of genes associated with monogenic human cardiomyopathy. We selected 42 genes involved in monogenic human cardiomyopathies to study: 1) DNA variants, by sequencing the whole-genome of 13-week old HHR and age-matched normal heart rat (NHR), its genetic control strain; 2) mRNA expression, by targeted RNA-sequencing in left ventricles of HHR and NHR at five ages (2-days old, 4-, 13-, 33- and 50-weeks old) compared to human idiopathic dilated data; and 3) microRNA expression, with rat microRNA microarrays in left ventricles of 2-days old HHR and age-matched NHR...
May 18, 2018: Physiological Genomics
https://www.readbyqxmd.com/read/29774212/alkaline-peptone-water-based-enrichment-method-for-mcr-3-from-acute-diarrheic-outpatient-gut-samples
#6
Qiaoling Sun, Yanyan Hu, Hongwei Zhou, Lingbin Shu, Hanyu Wang, Zixian Huang, Rong Zhang
A third plasmid-mediated colistin resistance gene, mcr-3 , is increasingly being reported in Enterobacteriaceae and Aeromonas spp. from animals and humans. To investigate the molecular epidemiology of mcr in the gut flora of Chinese outpatients, 152 stool specimens were randomly collected from outpatients in our hospital from May to June, 2017. Stool specimens enriched in alkaline peptone water or Luria-Bertani (LB) broth were screened for mcr-1, mcr-2 , and mcr-3 using polymerase chain reaction (PCR)-based assays...
2018: Frontiers in Medicine
https://www.readbyqxmd.com/read/29773658/detecting-quantifying-and-discriminating-the-mechanism-of-mosaic-chromosomal-aneuploidies-using-mad-seq
#7
Yu Kong, Esther R Berko, Anthony Marckette, Shahina B Maqbool, Claudia A Simões-Pires, David F Kronn, Qian K Ye, Masako Suzuki, Adam Auton, John Greally
Current approaches to detect and characterize mosaic chromosomal aneuploidy are limited by sensitivity, efficiency, cost or the need to culture cells. We describe the mosaic aneuploidy detection by massively-parallel sequencing (MAD-seq) capture assay and the MADSEQ analytical approach that allow low (<10%) levels of mosaicism for chromosomal aneuploidy or regional loss of heterozygosity to be detected, assigned to a meiotic or mitotic origin, and quantified as a proportion of the cells in the sample. We show results from a multi-ethnic MAD-seq (meMAD-seq) capture design that works equally well in populations of diverse racial and ethnic origins, and how the MADSEQ analytical approach can be applied to exome or whole genome sequencing data, revealing previously unrecognized aneuploidy or copy number neutral loss of heterozygosity in samples studied by the 1000 Genomes project, cell lines from public repositories, and one of the Illumina Platinum Genomes samples...
May 17, 2018: Genome Research
https://www.readbyqxmd.com/read/29772771/a-novel-hepadnavirus-identified-in-an-immunocompromised-domestic-cat-in-australia
#8
Mahdis Aghazadeh, Mang Shi, Vanessa R Barrs, Alicia J McLuckie, Scott A Lindsay, Barbara Jameson, Bronte Hampson, Edward C Holmes, Julia A Beatty
High-throughput transcriptome sequencing allows for the unbiased detection of viruses in host tissues. The application of this technique to immunosuppressed animals facilitates the detection of viruses that might otherwise be excluded or contained in immunocompetent individuals. To identify potential viral pathogens infecting domestic cats we performed high-throughput transcriptome sequencing of tissues from cats infected with feline immunodeficiency virus (FIV). A novel member of the Hepadnaviridae , tentatively named domestic cat hepadnavirus, was discovered in a lymphoma sample and its complete 3187 bp genome characterized...
May 17, 2018: Viruses
https://www.readbyqxmd.com/read/29772399/characterization-of-a-g10p-14-rotavirus-strain-from-a-diarrheic-child-in-thailand-evidence-for-bovine-to-human-zoonotic-transmission
#9
Ratana Tacharoenmuang, Satoshi Komoto, Ratigorn Guntapong, Tomihiko Ide, Phakapun Singchai, Sompong Upachai, Saori Fukuda, Yumika Yoshida, Takayuki Murata, Tetsushi Yoshikawa, Kriangsak Ruchusatsawat, Kazushi Motomura, Naokazu Takeda, Somchai Sangkitporn, Koki Taniguchi
An unusual rotavirus strain, DB2015-066 with the G10P[14] genotype (RVA/Human-wt/THA/dB2015-066/2015/G10P[14]), was detected in a stool sample from a child hospitalized with acute gastroenteritis in Thailand. Here, we sequenced and characterized the full-genome of the strain DB2015-066. On whole genomic analysis, strain DB2015-066 was shown to have a unique genotype constellation: G10-P[14]-I2-R2-C2-M2-A3-N2-T6-E2-H3. The backbone genes of this strain (I2-R2-C2-M2-A3-N2-T6-E2-H3) are commonly found in rotavirus strains from artiodactyls such as cattle...
May 14, 2018: Infection, Genetics and Evolution
https://www.readbyqxmd.com/read/29765361/biodiversity-of-environmental-leptospira-improving-identification-and-revisiting-the-diagnosis
#10
Roman Thibeaux, Dominique Girault, Emilie Bierque, Marie-Estelle Soupé-Gilbert, Anna Rettinger, Anthony Douyère, Michael Meyer, Gregorio Iraola, Mathieu Picardeau, Cyrille Goarant
Leptospirosis is an important environmental disease and a major threat to human health causing at least 1 million clinical infections annually. There has recently been a growing interest in understanding the environmental lifestyle of Leptospira . However, Leptospira isolation from complex environmental samples is difficult and time-consuming and few tools are available to identify Leptospira isolates at the species level. Here, we propose a polyphasic isolation and identification scheme, which might prove useful to recover and identify environmental isolates and select those to be submitted to whole-genome sequencing...
2018: Frontiers in Microbiology
https://www.readbyqxmd.com/read/29764365/towards-pan-genome-read-alignment-to-improve-variation-calling
#11
Daniel Valenzuela, Tuukka Norri, Niko Välimäki, Esa Pitkänen, Veli Mäkinen
BACKGROUND: Typical human genome differs from the reference genome at 4-5 million sites. This diversity is increasingly catalogued in repositories such as ExAC/gnomAD, consisting of >15,000 whole-genomes and >126,000 exome sequences from different individuals. Despite this enormous diversity, resequencing data workflows are still based on a single human reference genome. Identification and genotyping of genetic variants is typically carried out on short-read data aligned to a single reference, disregarding the underlying variation...
May 9, 2018: BMC Genomics
https://www.readbyqxmd.com/read/29764212/the-clinical-application-of-single-sperm-based-snp-haplotyping-for-pgd-of-osteogenesis-imperfecta
#12
Linjun Chen, Zhenyu Diao, Zhipeng Xu, Jianjun Zhou, Guijun Yan, Haixiang Sun
Osteogenesis imperfecta (OI) is a genetically heterogeneous disorder, presenting either autosomal dominant, autosomal recessive or X-linked inheritance patterns. The majority of OI cases are autosomal dominant and are caused by heterozygous mutations in either the COL1A1 or COL1A2 gene. In these dominant disorders, allele dropout (ADO) can lead to misdiagnosis in preimplantation genetic diagnosis (PGD). Polymorphic markers linked to the mutated genes have been used to establish haplotypes for identifying ADO and ensuring the accuracy of PGD...
May 15, 2018: Systems Biology in Reproductive Medicine
https://www.readbyqxmd.com/read/29763432/distinctive-types-of-postzygotic-single-nucleotide-mosaicisms-in-healthy-individuals-revealed-by-genome-wide-profiling-of-multiple-organs
#13
August Yue Huang, Xiaoxu Yang, Sheng Wang, Xianing Zheng, Qixi Wu, Adam Yongxin Ye, Liping Wei
Postzygotic single-nucleotide mosaicisms (pSNMs) have been extensively studied in tumors and are known to play critical roles in tumorigenesis. However, the patterns and origin of pSNMs in normal organs of healthy humans remain largely unknown. Using whole-genome sequencing and ultra-deep amplicon re-sequencing, we identified and validated 164 pSNMs from 27 postmortem organ samples obtained from five healthy donors. The mutant allele fractions ranged from 1.0% to 29.7%. Inter- and intra-organ comparison revealed two distinctive types of pSNMs, with about half originating during early embryogenesis (embryonic pSNMs) and the remaining more likely to result from clonal expansion events that had occurred more recently (clonal expansion pSNMs)...
May 15, 2018: PLoS Genetics
https://www.readbyqxmd.com/read/29762926/genetic-complexity-of-mitral-valve-prolapse-revealed-by-clinical-and-genetic-evaluation-of-a-large-family
#14
Gloria T Haskell, Brian C Jensen, Cecile Skrzynia, Thelsa Pulikkotil, Christian R Tilley, Yurong Lu, Daniel S Marchuk, Leigh Ann Samsa, Kirk C Wilhelmsen, Ethan Lange, Cam Patterson, James P Evans, Jonathan S Berg
BACKGROUND: A genetic component to familial mitral valve prolapse (MVP) has been proposed for decades. Despite this, very few genes have been linked to MVP. Herein is described a four-generation pedigree with numerous individuals affected with severe MVP, some at strikingly young ages. METHODS: A detailed clinical evaluation performed on all affected family members demonstrated a spectrum of MVP morphologies and associated phenotypes. RESULTS: Linkage analysis failed to identify strong candidate loci, but revealed significant regions, which were investigated further using whole-exome sequencing of one of the severely affected family members...
September 2017: Journal of Heart Valve Disease
https://www.readbyqxmd.com/read/29755435/analysis-of-phylogenetic-variation-of-stenotrophomonas-maltophilia-reveals-human-specific-branches
#15
Joerg Steinmann, Uwe Mamat, Ebrahim M Abda, Lisa Kirchhoff, Wolfgang R Streit, Ulrich E Schaible, Stefan Niemann, Thomas A Kohl
Stenotrophomonas maltophilia is a non-fermenting Gram-negative bacterium that is ubiquitous in the environment. In humans, this opportunistic multi-drug-resistant pathogen is responsible for a plethora of healthcare-associated infections. Here, we utilized a whole genome sequencing (WGS)-based phylogenomic core single nucleotide polymorphism (SNP) approach to characterize S. maltophilia subgroups, their potential association with human infection, and to detect any possible transmission events. In total, 89 isolates (67 clinical and 22 environmental) from Germany were sequenced...
2018: Frontiers in Microbiology
https://www.readbyqxmd.com/read/29755193/h9n2-avian-influenza-virus-retained-low-pathogenicity-after-serial-passage-in-chickens
#16
Akinlolu Jegede, Qigao Fu, Yohannes Berhane, Min Lin, Ashok Kumar, Jiewen Guan
The H9N2 strains of avian influenza viruses (AIVs) circulate worldwide in poultry and cause sporadic infection in humans. To better understand the evolution of these viruses while circulating in poultry, an H9N2 chicken isolate was passaged 19 times in chickens via aerosol inoculation. Whole-genome sequencing showed that the viruses from the initial stock and those after the 8th and 19th passages (P0, P8, and P19) all had the same monobasic cleavage site in the hemagglutinin (HA), typical for viruses of low pathogenicity...
April 2018: Canadian Journal of Veterinary Research, Revue Canadienne de Recherche Vétérinaire
https://www.readbyqxmd.com/read/29754769/a-statistical-framework-for-mapping-risk-genes-from-de-novo-mutations-in-whole-genome-sequencing-studies
#17
Yuwen Liu, Yanyu Liang, A Ercument Cicek, Zhongshan Li, Jinchen Li, Rebecca A Muhle, Martina Krenzer, Yue Mei, Yan Wang, Nicholas Knoblauch, Jean Morrison, Siming Zhao, Yi Jiang, Evan Geller, Iuliana Ionita-Laza, Jinyu Wu, Kun Xia, James P Noonan, Zhong Sheng Sun, Xin He
Analysis of de novo mutations (DNMs) from sequencing data of nuclear families has identified risk genes for many complex diseases, including multiple neurodevelopmental and psychiatric disorders. Most of these efforts have focused on mutations in protein-coding sequences. Evidence from genome-wide association studies (GWASs) strongly suggests that variants important to human diseases often lie in non-coding regions. Extending DNM-based approaches to non-coding sequences is challenging, however, because the functional significance of non-coding mutations is difficult to predict...
April 30, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29752561/searching-whole-genome-sequences-for-biochemical-identification-features-of-emerging-and-reemerging-pathogenic-corynebacterium-species
#18
André S Santos, Rommel T Ramos, Artur Silva, Raphael Hirata, Ana L Mattos-Guaraldi, Roberto Meyer, Vasco Azevedo, Liza Felicori, Luis G C Pacheco
Biochemical tests are traditionally used for bacterial identification at the species level in clinical microbiology laboratories. While biochemical profiles are generally efficient for the identification of the most important corynebacterial pathogen Corynebacterium diphtheriae, their ability to differentiate between biovars of this bacterium is still controversial. Besides, the unambiguous identification of emerging human pathogenic species of the genus Corynebacterium may be hampered by highly variable biochemical profiles commonly reported for these species, including Corynebacterium striatum, Corynebacterium amycolatum, Corynebacterium minutissimum, and Corynebacterium xerosis...
May 11, 2018: Functional & Integrative Genomics
https://www.readbyqxmd.com/read/29752274/molecular-epidemiology-of-shiga-toxin-producing-escherichia-coli-stec-on-new-zealand-dairy-farms-application-of-a-culture-independent-assay-and-whole-genome-sequencing
#19
A Springer Browne, Anne C Midwinter, Helen Withers, Adrian L Cookson, Patrick J Biggs, Jonathan C Marshall, Jackie Benschop, Steve Hathaway, Neville A Haack, Rukhshana N Akhter, Nigel P French
New Zealand has a relatively high incidence of human cases of Shiga toxin-producing Escherichia coli (STEC), with 8.9 STEC cases per 100,000 people reported in 2016. Previous research showed living near cattle and contact with cattle feces as significant risk factors for STEC infections in humans in New Zealand, but infection was not linked to food-associated factors. During the 2014 spring calving season, a random stratified cross-sectional study of dairy farms (n=102) in six regions across New Zealand assessed the prevalence of the 'Top 7' STEC (serogroups O157, O26, O45, O103, O111, O121, O145) in young calves (n=1,508) using a culture-independent diagnostic test (PCR/MALDI-TOF)...
May 11, 2018: Applied and Environmental Microbiology
https://www.readbyqxmd.com/read/29751582/whole-exome-sequencing-identifies-new-host-genomic-susceptibility-factors-in-empyema-caused-by-streptococcus-pneumoniae-in-children-a-pilot-study
#20
Antonio Salas, Jacobo Pardo-Seco, Ruth Barral-Arca, Miriam Cebey-López, Alberto Gómez-Carballa, Irene Rivero-Calle, Sara Pischedda, María-José Currás-Tuala, Jorge Amigo, José Gómez-Rial, Federico Martinón-Torres
Pneumonia is the leading cause of death amongst infectious diseases. Streptococcus pneumoniae is responsible for about 25% of pneumonia cases worldwide, and it is a major cause of childhood mortality. We carried out a whole exome sequencing (WES) study in eight patients with complicated cases of pneumococcal pneumonia (empyema). An initial assessment of statistical association of WES variation with pneumonia was carried out using data from the 1000 Genomes Project (1000G) for the Iberian Peninsula (IBS) as reference controls...
May 3, 2018: Genes
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