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Human whole genome sequencing

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https://www.readbyqxmd.com/read/28324015/paternally-inherited-dlk1-deletion-associated-with-familial-central-precocious-puberty
#1
Andrew Dauber, Marina Cunha-Silva, Delanie B Macedo, Vinicius N Brito, Ana Paula Abreu, Stephanie A Roberts, Luciana R Montenegro, Melissa Andrew, Andrew Kirby, Matthew T Weirauch, Guillaume Labilloy, Danielle S Bessa, Rona S Carroll, Dakota C Jacobs, Patrick E Chappell, Berenice B Mendonca, David Haig, Ursula B Kaiser, Ana Claudia Latronico
Context: Central precocious puberty (CPP) results from premature activation of the hypothalamic-pituitary-gonadal axis. Few genetic causes of CPP have been identified with the most common being mutations in the paternally expressed imprinted gene MKRN3. Objective: To identify the genetic etiology of CPP in a large multigenerational family. Design: Linkage analysis followed by whole genome sequencing was performed in a family with 5 female members with nonsyndromic CPP...
January 27, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28323406/affinity-selection-mass-spectrometry-identifies-a-novel-antibacterial-rna-polymerase-inhibitor
#2
Scott S Walker, David Degen, Elliott Nickbarg, Donna Carr, Aileen Soriano, Mihir Baran Mandal, Ronald E Painter, Payal R Sheth, Li Xiao, Xinwei Sher, Nicholas Murgolo, Jing Su, David B Olsen, Richard H Ebright, Katherine Young
The growing prevalence of drug-resistant Gram-negative bacteria is a significant global threat to human health. Rifampicin, an RNA polymerase-targeting agent, is an important part of the antibacterial armamentarium; however the emergence of resistance requires that it be used against only certain infections and usually in combination with another antibiotic. While rifampicin has significant clinical limitations, it does show that bacterial RNA polymerase can be an effective target for antibacterial intervention...
March 21, 2017: ACS Chemical Biology
https://www.readbyqxmd.com/read/28319063/compromised-brca1-palb2-interaction-is-associated-with-breast-cancer-risk
#3
T K Foo, M Tischkowitz, S Simhadri, T Boshari, N Zayed, K A Burke, S H Berman, P Blecua, N Riaz, Y Huo, Y C Ding, S L Neuhausen, B Weigelt, J S Reis-Filho, W D Foulkes, B Xia
The major breast cancer suppressor proteins BRCA1 and BRCA2 play essential roles in homologous recombination (HR)-mediated DNA repair, which is thought to be critical for tumor suppression. The two BRCA proteins are linked by a third tumor suppressor, PALB2, in the HR pathway. While truncating mutations in these genes are generally pathogenic, interpretation of missense variants remains a challenge. To date, patient-derived missense variants that disrupt PALB2 binding have been identified in BRCA1 and BRCA2; however, there has not been sufficient evidence to prove their pathogenicity in humans, and no variants in PALB2 that disrupt either its BRCA1 or BRCA2 binding have been reported...
March 20, 2017: Oncogene
https://www.readbyqxmd.com/read/28319011/resequencing-helminth-genomes-for-population-and-genetic-studies
#4
REVIEW
Janneke Wit, John S Gilleard
Next-generation sequencing has become increasingly accessible and economical, making genome-wide studies routine for many species, including humans, model organisms, and domestic livestock. However, in the case of helminth parasites, there are still major practical challenges to the application of these approaches for genetic and population studies. Dozens to hundreds of individual parasites from multiple populations may need to be re-sequenced which, together with the relatively large size of helminth genomes, can still make whole-genome resequencing of individual parasites unfeasible for many studies...
March 16, 2017: Trends in Parasitology
https://www.readbyqxmd.com/read/28318500/mutations-in-tmem260-cause-a-pediatric-neurodevelopmental-cardiac-and-renal-syndrome
#5
Asaf Ta-Shma, Tahir N Khan, Asaf Vivante, Jason R Willer, Pavle Matak, Chaim Jalas, Ben Pode-Shakked, Yishay Salem, Yair Anikster, Friedhelm Hildebrandt, Nicholas Katsanis, Orly Elpeleg, Erica E Davis
Despite the accelerated discovery of genes associated with syndromic traits, the majority of families affected by such conditions remain undiagnosed. Here, we employed whole-exome sequencing in two unrelated consanguineous kindreds with central nervous system (CNS), cardiac, renal, and digit abnormalities. We identified homozygous truncating mutations in TMEM260, a locus predicted to encode numerous splice isoforms. Systematic expression analyses across tissues and developmental stages validated two such isoforms, which differ in the utilization of an internal exon...
March 11, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28298902/global-distribution-and-evolutionary-history-of-enterovirus-d68-with-emphasis-on-the-2014-outbreak-in-ontario-canada
#6
Alireza Eshaghi, Venkata R Duvvuri, Sandra Isabel, Philip Banh, Aimin Li, Adriana Peci, Samir N Patel, Jonathan B Gubbay
Despite its first appearance in 1962, human enterovirus D68 (EV-D68) has been recognized as an emerging respiratory pathogen in the last decade when it caused outbreaks and clusters in several countries including Japan, the Philippines, and the Netherlands. The most recent and largest outbreak of EV-D68 associated with severe respiratory illness took place in North America between August 2014 and January 2015. Between September 1 and October 31 2014, EV-D68 infection was laboratory confirmed among 153/907 (16...
2017: Frontiers in Microbiology
https://www.readbyqxmd.com/read/28292896/loss-of-lmod1-impairs-smooth-muscle-cytocontractility-and-causes-megacystis-microcolon-intestinal-hypoperistalsis-syndrome-in-humans-and-mice
#7
Danny Halim, Michael P Wilson, Daniel Oliver, Erwin Brosens, Joke B G M Verheij, Yu Han, Vivek Nanda, Qing Lyu, Michael Doukas, Hans Stoop, Rutger W W Brouwer, Wilfred F J van IJcken, Orazio J Slivano, Alan J Burns, Christine K Christie, Karen L de Mesy Bentley, Alice S Brooks, Dick Tibboel, Suowen Xu, Zheng Gen Jin, Tono Djuwantono, Wei Yan, Maria M Alves, Robert M W Hofstra, Joseph M Miano
Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a congenital visceral myopathy characterized by severe dilation of the urinary bladder and defective intestinal motility. The genetic basis of MMIHS has been ascribed to spontaneous and autosomal dominant mutations in actin gamma 2 (ACTG2), a smooth muscle contractile gene. However, evidence suggesting a recessive origin of the disease also exists. Using combined homozygosity mapping and whole exome sequencing, a genetically isolated family was found to carry a premature termination codon in Leiomodin1 (LMOD1), a gene preferentially expressed in vascular and visceral smooth muscle cells...
March 14, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28284625/putative-vaccine-breakthrough-event-associated-with-heterotypic-rotavirus-infection-in-newborn-calves-turkey-2015
#8
Ilke Karayel, Enikő Fehér, Szilvia Marton, Nüvit Coskun, Krisztián Bányai, Feray Alkan
Group A rotaviruses (RVA) are regarded as major enteric pathogens of large ruminants, including cattle. Rotavirus vaccines administered to pregnant cows are commonly used to provide passive immunity that protects newborn calves from the clinical disease. In this study we report the detection of RVA from calves with severe diarrhea in a herd regularly vaccinated to prevent enteric infections including RVA. Diarrheic disease was observed in newborn calves aged 4-15days, with high morbidity and mortality rates, but no diarrhea was seen in adult animals...
March 2017: Veterinary Microbiology
https://www.readbyqxmd.com/read/28283040/functional-variation-in-allelic-methylomes-underscores-a-strong-genetic-contribution-and-reveals-novel-epigenetic-alterations-in-the-human-epigenome
#9
Warren A Cheung, Xiaojian Shao, Andréanne Morin, Valérie Siroux, Tony Kwan, Bing Ge, Dylan Aïssi, Lu Chen, Louella Vasquez, Fiona Allum, Frédéric Guénard, Emmanuelle Bouzigon, Marie-Michelle Simon, Elodie Boulier, Adriana Redensek, Stephen Watt, Avik Datta, Laura Clarke, Paul Flicek, Daniel Mead, Dirk S Paul, Stephan Beck, Guillaume Bourque, Mark Lathrop, André Tchernof, Marie-Claude Vohl, Florence Demenais, Isabelle Pin, Kate Downes, Hendrick G Stunnenberg, Nicole Soranzo, Tomi Pastinen, Elin Grundberg
BACKGROUND: The functional impact of genetic variation has been extensively surveyed, revealing that genetic changes correlated to phenotypes lie mostly in non-coding genomic regions. Studies have linked allele-specific genetic changes to gene expression, DNA methylation, and histone marks but these investigations have only been carried out in a limited set of samples. RESULTS: We describe a large-scale coordinated study of allelic and non-allelic effects on DNA methylation, histone mark deposition, and gene expression, detecting the interrelations between epigenetic and functional features at unprecedented resolution...
March 10, 2017: Genome Biology
https://www.readbyqxmd.com/read/28279858/characterization-of-isolates-of-eisenbergiella-tayi-a-strictly-anaerobic-gram-stain-variable-bacillus-recovered-from-human-clinical-materials-in-canada
#10
Kathryn Bernard, Tamara Burdz, Deborah Wiebe, Brittany M Balcewich, Tina Zimmerman, Philippe Lagacé-Wiens, Linda M N Hoang, Anne-Marie Bernier
Eisenbergiella gen. nov. was proposed in 2014 to describe an obligate anaerobic, structurally Gram-positive but Gram-stain-negative-appearing bacillus recovered from the blood culture of an elderly Israeli man. Here, we describe features for eight blood culture isolates as well one appendix-derived isolate, recovered from seven patients located in two Canadian provinces, which by 16S rRNA gene sequencing, were identifiable as Eisenbergiella tayi, the sole validly- named species in this genus. After whole genome sequencing, isolates were found to be essentially identical (96...
March 7, 2017: Anaerobe
https://www.readbyqxmd.com/read/28279756/analysis-of-ccr5-gene-polymorphisms-in-321-healthy-saudis-using-next-generation-sequencing
#11
Mohammed A Al Balwi, Ali I Hadadi, Wardah Alharbi, Mariam Ballow, Abdulrahman AlAsiri, Abdulkareem AlAbdulrahman, Udayaraja G K, Mohammed Aldrees, Ibrahim AlAbdulkareem, Ali H Hajeer
AIMS: To investigate the extent of CCR5 polymorphism in the healthy Saudi population. METHOD: A total of 321 healthy Saudi individuals were sequenced using the ion Ampliseq™ Exome kit (Life Technologies, USA) on genomic DNA following manufacturer's protocol. Whole Exome Sequencing (WES) reads were aligned to the human reference genome (hg19 build) with Torrent Suite Software (v5.0.2) and the variants were called using the Torrent Variant Caller plugin (v5.0) and imported into Ion Reporter Server (v5...
March 7, 2017: Human Immunology
https://www.readbyqxmd.com/read/28271061/identification-and-expression-analysis-of-the-complete-family-of-zebrafish-pkd-genes
#12
Samantha J England, Paul C Campbell, Santanu Banerjee, Annika J Swanson, Katharine E Lewis
Polycystic kidney disease (PKD) proteins are trans-membrane proteins that have crucial roles in many aspects of vertebrate development and physiology, including the development of many organs as well as left-right patterning and taste. They can be divided into structurally-distinct PKD1-like and PKD2-like proteins and usually one PKD1-like protein forms a heteromeric polycystin complex with a PKD2-like protein. For example, PKD1 forms a complex with PKD2 and mutations in either of these proteins cause Autosomal Dominant Polycystic Kidney Disease (ADPKD), which is the most frequent potentially-lethal single-gene disorder in humans...
2017: Frontiers in Cell and Developmental Biology
https://www.readbyqxmd.com/read/28270823/mlpa-based-analysis-of-copy-number-variation-in-plant-populations
#13
Anna Samelak-Czajka, Malgorzata Marszalek-Zenczak, Malgorzata Marcinkowska-Swojak, Piotr Kozlowski, Marek Figlerowicz, Agnieszka Zmienko
Copy number variants (CNVs) are intraspecies duplications/deletions of large DNA segments (>1 kb). A growing number of reports highlight the functional and evolutionary impact of CNV in plants, increasing the need for appropriate tools that enable locus-specific CNV genotyping on a population scale. Multiplex ligation-dependent probe amplification (MLPA) is considered a gold standard in genotyping CNV in humans. Consequently, numerous commercial MLPA assays for CNV-related human diseases have been created...
2017: Frontiers in Plant Science
https://www.readbyqxmd.com/read/28270801/molecular-fingerprinting-studies-do-not-support-intrahospital-transmission-of-candida-albicans-among-candidemia-patients-in-kuwait
#14
Mohammad Asadzadeh, Suhail Ahmad, Noura Al-Sweih, Ziauddin Khan
Candida albicans, a constituent of normal microbial flora of human mucosal surfaces, is a major cause of candidemia in immunocompromised individuals and hospitalized patients with other debilitating diseases. Molecular fingerprinting studies have suggested nosocomial transmission of C. albicans based on the presence of clusters or endemic genotypes in some hospitals. However, intrahospital strain transmission or a common source of infection has not been firmly established. We performed multilocus sequence typing (MLST) on 102 C...
2017: Frontiers in Microbiology
https://www.readbyqxmd.com/read/28263317/identification-of-methylation-haplotype-blocks-aids-in-deconvolution-of-heterogeneous-tissue-samples-and-tumor-tissue-of-origin-mapping-from-plasma-dna
#15
Shicheng Guo, Dinh Diep, Nongluk Plongthongkum, Ho-Lim Fung, Kang Zhang, Kun Zhang
Adjacent CpG sites in mammalian genomes can be co-methylated owing to the processivity of methyltransferases or demethylases, yet discordant methylation patterns have also been observed, which are related to stochastic or uncoordinated molecular processes. We focused on a systematic search and investigation of regions in the full human genome that show highly coordinated methylation. We defined 147,888 blocks of tightly coupled CpG sites, called methylation haplotype blocks, after analysis of 61 whole-genome bisulfite sequencing data sets and validation with 101 reduced-representation bisulfite sequencing data sets and 637 methylation array data sets...
March 6, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28263315/whole-genome-sequencing-identifies-common-to-rare-variants-associated-with-human-blood-metabolites
#16
Tao Long, Michael Hicks, Hung-Chun Yu, William H Biggs, Ewen F Kirkness, Cristina Menni, Jonas Zierer, Kerrin S Small, Massimo Mangino, Helen Messier, Suzanne Brewerton, Yaron Turpaz, Brad A Perkins, Anne M Evans, Luke A D Miller, Lining Guo, C Thomas Caskey, Nicholas J Schork, Chad Garner, Tim D Spector, J Craig Venter, Amalio Telenti
Genetic factors modifying the blood metabolome have been investigated through genome-wide association studies (GWAS) of common genetic variants and through exome sequencing. We conducted a whole-genome sequencing study of common, low-frequency and rare variants to associate genetic variations with blood metabolite levels using comprehensive metabolite profiling in 1,960 adults. We focused the analysis on 644 metabolites with consistent levels across three longitudinal data collections. Genetic sequence variations at 101 loci were associated with the levels of 246 (38%) metabolites (P ≤ 1...
March 6, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28261975/association-between-genetic-variants-in-the-human-leukocyte-antigen-b-mica-and-takayasu-arteritis-in-chinese-han-population
#17
Xiaoting Wen, Si Chen, Jing Li, Yuan Li, Liubing Li, Ziyan Wu, Hui Yuan, Xinping Tian, Fengchun Zhang, Yongzhe Li
AIM: Takayasu arteritis (TA) is a rare autoimmune disease with ethnic differences. Genome-wide association studies (GWAS) showed novel genetic variants in the human leukocyte antigen (HLA) region were associated with TA. The present study aimed to investigate the linkage between these single nucleotide polymorphisms (SNP) and TA in a Chinese Han population. METHODS: Four hundred and twelve patients from multiple centers and 597 healthy controls were genotyped using the Sequenom MassArray iPLEX platform...
March 5, 2017: International Journal of Rheumatic Diseases
https://www.readbyqxmd.com/read/28260531/defining-the-diverse-spectrum-of-inversions-complex-structural-variation-and-chromothripsis-in-the-morbid-human%C3%A2-genome
#18
Ryan L Collins, Harrison Brand, Claire E Redin, Carrie Hanscom, Caroline Antolik, Matthew R Stone, Joseph T Glessner, Tamara Mason, Giulia Pregno, Naghmeh Dorrani, Giorgia Mandrile, Daniela Giachino, Danielle Perrin, Cole Walsh, Michelle Cipicchio, Maura Costello, Alexei Stortchevoi, Joon-Yong An, Benjamin B Currall, Catarina M Seabra, Ashok Ragavendran, Lauren Margolin, Julian A Martinez-Agosto, Diane Lucente, Brynn Levy, Stephan J Sanders, Ronald J Wapner, Fabiola Quintero-Rivera, Wigard Kloosterman, Michael E Talkowski
BACKGROUND: Structural variation (SV) influences genome organization and contributes to human disease. However, the complete mutational spectrum of SV has not been routinely captured in disease association studies. RESULTS: We sequenced 689 participants with autism spectrum disorder (ASD) and other developmental abnormalities to construct a genome-wide map of large SV. Using long-insert jumping libraries at 105X mean physical coverage and linked-read whole-genome sequencing from 10X Genomics, we document seven major SV classes at ~5 kb SV resolution...
March 6, 2017: Genome Biology
https://www.readbyqxmd.com/read/28260210/the-study-of-human-y-chromosome-variation-through-ancient-dna
#19
REVIEW
Toomas Kivisild
High throughput sequencing methods have completely transformed the study of human Y chromosome variation by offering a genome-scale view on genetic variation retrieved from ancient human remains in context of a growing number of high coverage whole Y chromosome sequence data from living populations from across the world. The ancient Y chromosome sequences are providing us the first exciting glimpses into the past variation of male-specific compartment of the genome and the opportunity to evaluate models based on previously made inferences from patterns of genetic variation in living populations...
March 4, 2017: Human Genetics
https://www.readbyqxmd.com/read/28258043/whole-genome-single-nucleotide-variant-distribution-on-genomic-regions-and-its-relationship-to-major-depression
#20
Chenglong Yu, Bernhard T Baune, Julio Licinio, Ma-Li Wong
Recent advances in DNA technologies have provided unprecedented opportunities for biological and medical research. In contrast to current popular genotyping platforms which identify specific variations, whole-genome sequencing (WGS) allows for the detection of all private mutations within an individual. Major depressive disorder (MDD) is a chronic condition with enormous medical, social and economic impacts. Genetic analysis, by identifying risk variants and thereby increasing our understanding of how MDD arises, could lead to improved prevention and the development of new and more effective treatments...
February 20, 2017: Psychiatry Research
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