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https://www.readbyqxmd.com/read/28938745/a-closer-look-at-expanded-carrier-screening-from-a-pgd-perspective
#1
Carolina Vaz-de-Macedo, Joyce Harper
Conventionally, the search for carrier status was based on ethnicity and/or family history and targeted to a restricted number of genetic conditions and mutations. This is now being replaced by extended panels testing for hundreds of genetic disorders with a broad range of phenotypes, in what is called 'expanded carrier screening'. While the ultimate aim of these panels is to increase the reproductive autonomy of the individuals and couples by providing preconception knowledge that could lead to the broadest range of available options, including PGD, we argue that: (i) Given the number and heterogeneity of the conditions included in panels, it cannot be guaranteed that a couple who tests positive for one of those conditions will be eligible for PGD; patients should be informed of this potential limitation before undertaking screening...
October 1, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28938744/an-improved-ivm-method-for-cumulus-oocyte-complexes-from-small-follicles-in-polycystic-ovary-syndrome-patients-enhances-oocyte-competence-and-embryo-yield
#2
F Sánchez, F Lolicato, S Romero, M De Vos, H Van Ranst, G Verheyen, E Anckaert, J E J Smitz
STUDY QUESTION: Are meiotic and developmental competence of human oocytes from small (2-8 mm) antral follicles improved by applying an optimized IVM method involving a prematuration step in presence of C-Type Natriuretic Peptide (CNP) followed by a maturation step in presence of FSH and Amphiregulin (AREG)? SUMMARY ANSWER: A strategy involving prematuration culture (PMC) in the presence of CNP followed by IVM using FSH + AREG increases oocyte maturation potential leading to a higher availability of Day 3 embryos and good-quality blastocysts for single embryo transfer...
October 1, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28938736/deep-sequencing-shows-that-oocytes-are-not-prone-to-accumulate-mtdna-heteroplasmic-mutations-during-ovarian-ageing
#3
L Boucret, C Bris, V Seegers, D Goudenège, V Desquiret-Dumas, M Domin-Bernhard, V Ferré-L'Hotellier, P E Bouet, P Descamps, P Reynier, V Procaccio, P May-Panloup
STUDY QUESTION: Does ovarian ageing increase the number of heteroplasmic mitochondrial DNA (mtDNA) point mutations in oocytes? SUMMARY ANSWER: Our results suggest that oocytes are not subject to the accumulation of mtDNA point mutations during ovarian ageing. WHAT IS KNOWN ALREADY: Ageing is associated with the alteration of mtDNA integrity in various tissues. Primary oocytes, present in the ovary since embryonic life, may accumulate mtDNA mutations during the process of ovarian ageing...
October 1, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28938720/deep-whole-genome-sequencing-of-90-han-chinese-genomes
#4
Tianming Lan, Haoxiang Lin, Wenjuan Zhu, Tellier Christian Asker Melchior Laurent, Mengcheng Yang, Xin Liu, Jun Wang, Jian Wang, Huanming Yang, Xun Xu, Xiaosen Guo
Next-generation sequencing provides a high-resolution insight into human genetic information. However, the focus of previous studies has primarily been on low-coverage data due to the high cost of sequencing. Although the 1000 Genomes Project and the Haplotype Reference Consortium have both provided powerful reference panels for imputation, low-frequency and novel variants remain difficult to discover and call with accuracy on the basis of low-coverage data. Deep sequencing provides an optimal solution for the problem of these low-frequency and novel variants...
September 1, 2017: GigaScience
https://www.readbyqxmd.com/read/28938622/profiling-cancer-related-gene-mutations-in-oral-squamous-cell-carcinoma-from-japanese-patients-by-targeted-amplicon-sequencing
#5
Takafumi Nakagaki, Miyuki Tamura, Kenta Kobashi, Ryota Koyama, Hisayo Fukushima, Tomoko Ohashi, Masashi Idogawa, Kazuhiro Ogi, Hiroyoshi Hiratsuka, Takashi Tokino, Yasushi Sasaki
Somatic mutation analysis is a standard practice in the study of human cancers to identify mutations that cause therapeutic sensitization and resistance. We performed comprehensive genomic analyses that used PCR target enrichment and next-generation sequencing on Ion Proton semiconductor sequencers. Forty-seven oral squamous cell carcinoma (OSCC) samples and their corresponding noncancerous tissues were used for multiplex PCR amplification to obtain targeted coverage of the entire coding regions of 409 cancer-related genes (covered regions: 95...
August 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28938416/pancreatic-histopathology-of-human-monogenic-diabetes-due-to-causal-variants-in-kcnj11-hnf1a-gata6-and-lmna
#6
May Sanyoura, Laura Jacobsen, David Carmody, Daniela Del Gaudio, Gorka Alkorta-Aranburu, Kelly Arndt, Ying Ying Hu, Frances Kobiernicki, Irina Kusmartseva, Mark A Atkinson, Louis H Philipson, Desmond Schatz, Martha Campbell-Thompson, Siri Atma W Greeley
Context: Monogenic diabetes is thought to account for 2% of all diabetes cases but most patients are misdiagnosed as type 1 or type 2 diabetes. To date, little is known about the histopathological features of pancreases from patients with monogenic diabetes. Objective: Retrospective study of the JDRF Network for Pancreatic Organ donors with Diabetes biorepository was used to identify possible cases with monogenic diabetes and to compare effects of genetic variants on pancreas histology...
August 16, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28938278/whole-exome-sequencing-in-inborn-errors-of-immunity-use-the-power-but-mind-the-limits
#7
Giorgia Bucciol, Erika Van Nieuwenhove, Leen Moens, Yuval Itan, Isabelle Meyts
PURPOSE OF REVIEW: Next-generation sequencing, especially whole exome sequencing (WES), has revolutionized the molecular diagnosis of inborn errors of immunity. This review summarizes the generation and analysis of next-generation sequencing data. RECENT FINDINGS: The focus is on prioritizing strategies for unveiling the potential disease-causing variant. We also highlighted oversights and imperfections of WES and targeted panel sequencing, as well as the need for functional validation...
September 21, 2017: Current Opinion in Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28938212/the-problem-of-identifying-arsenic-anomalies-in-the-basin-of-sahand-dam-through-risk-based-soft-modelling
#8
Ata Allah Nadiri, Fariba Sadeghi Aghdam, Rahman Khatibi, Asghar Asghari Moghaddam
An investigation is undertaken to identify arsenic anomalies at the complex of Sahand dam, East Azerbaijan, northwest Iran. The complex acts as a system, in which the impounding reservoir catalyses system components related to Origin-Source-Pathways-Receptor-Consequence (OSPRC) viewed as a risk system. This 'conceptual framework' overlays a 'perceptual model' of the physical system, in which arsenic with geogenic origins diffused into the formations through extensive fractures swept through the region during the Miocene era...
September 19, 2017: Science of the Total Environment
https://www.readbyqxmd.com/read/28937208/composition-dependent-morphology-of-bi-and-trimetallic-phosphides-construction-of-amorphous-pd-cu-ni-p-nanoparticles-as-a-selective-and-versatile-catalyst
#9
Ming Zhao, Yuan Ji, Mengyue Wang, Ning Zhong, Zinan Kang, Naoki Asao, Wen-Jie Jiang, Qiang Chen
Amorphous materials have been widely researched in heterogeneous catalysis and for next-generation batteries. However, the well-defined production of high-quality (e.g., monodisperse and high surface area) amorphous alloy nanomaterials has rarely been reported. In this work, we investigated the correlations among the composition, morphology, and catalysis of various Pd-M-P NPs (M = Cu or Ni), which indicated that less Cu (≤20 at%) was necessary for the formation of an amorphous morphology. The amorphous Pd-Cu-Ni-P NPs were fabricated with a controllable size and characterized carefully, which show excellent selective catalysis in the semi-hydrogenation of alkynes, hydrogenation of quinoline, and oxidation of primary alcohols...
September 22, 2017: ACS Applied Materials & Interfaces
https://www.readbyqxmd.com/read/28937030/a-de-novo-mutation-in-dystrophin-causing-muscular-dystrophy-in-a-female-patient
#10
Hao Yu, Yu-Chao Chen, Gong-Lu Liu, Zhi-Ying Wu
BACKGROUND: Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive neuromuscular diseases resulting from dystrophin (DMD) gene mutations. It has been known that the carrier of DMD mutations may also have symptoms of the disease. While de novo mutation is quite common in BMD/DMD patients, it is rarely reported in the female carriers. METHODS: Two sporadic Chinese patients with progressive muscular dystrophy and their familial members were recruited...
October 5, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28936979/advances-of-selectable-marker-genes-in-plastid-genetic-engineering
#11
Yong He, An Luo, Lian-Sheng Mu, Qiang Chen, Yan Zhang, Kai-Wun Yeh, Zhi-Hong Tian
Plastid genetic engineering is a safer, more precise, and more efficient transgene expression system than the nuclear genetic transformation system. It has been widely used in basic research and biotechnology applications as the next-generation transgenic technology in plants. Similar to nuclear genetic transformation, selection markers are needed in plastid genetic engineering to identify 'true' transformants and acquire homoplasmy. Because of the high copy number of plastids, maternal inheritance of the plastid genome, and the long process of homogenization of transplastomic plants, the selection markers for plastid genetic engineering are different from those used in the nuclear transformation system...
September 20, 2017: Yi Chuan, Hereditas
https://www.readbyqxmd.com/read/28936978/advances-on-polyphenism-in-insects
#12
Xian-Ci Xue, Li Yu
Polyphenism denotes that one genome produces two or more distinct phenotypes due to environmental inductions. Many cases have been reported in insects, for example, metamorphosis, seasonal polyphenism, the caste of eusocial insects and so on. Polyphenism is one of the most important reasons for insects to survive and thrive, because insects can adapt and use the environmental cues around them in order to avoid predators and reproduce by changing their phenotypes. Polyphenism has received growing attentions, ranging from the earlier description of this phenomenon to the exploration of possible inducing factors...
September 20, 2017: Yi Chuan, Hereditas
https://www.readbyqxmd.com/read/28936933/-dna-diagnostics-in-dementia
#13
C M Aalfs, R Vervenne-van Spaendonk, Y A L Pijnenburg, P E Cohn-Hokke, H J Meijers, P Scheltens
- Thanks to next-generation sequencing several genes can be examined in one go. Since this method has been introduced, the possibilities for DNA diagnostics in patients with dementia have increased tremendously in recent years.- DNA diagnostics is indicated for patients with an Alzheimer's disease diagnosis before they are 60 years old, for all patients with frontotemporal dementia and for patients with a positive family history.- For 15% of the patients who visited the Alzheimer centre of the VUmc, in Amsterdam, the Netherlands DNA diagnostics indicated a clear monogenic cause...
2017: Nederlands Tijdschrift Voor Geneeskunde
https://www.readbyqxmd.com/read/28936717/developing-a-typology-of-patient-generated-behavioral-goals-for-cognitive-behavioral-therapy-for-chronic-pain-cbt-cp-classification-and-predicting-outcomes
#14
Alicia A Heapy, Laura Wandner, Mary A Driscoll, Kathryn LaChappelle, Rebecca Czlapinski, Brenda T Fenton, John D Piette, James E Aikens, Mary R Janevic, Robert D Kerns
Patient-generated treatment goals describe what patients value, yet the content of these goals, and the relationship among goal types, goal accomplishment, and treatment outcomes has received little examination. We used inductive sorting to categorize patient-generated goals made by 147 adults receiving cognitive-behavioral therapy for chronic pain. The resulting goal categories were: Physical Activity (29.0%), Functional Status (24.6%), Wellness (16.3%), Recreational Activities (11.3%), House/Yard Work (9...
September 21, 2017: Journal of Behavioral Medicine
https://www.readbyqxmd.com/read/28936399/rising-rate-of-liver-transplantation-in-the-baby-boomer-generation-with-non-alcoholic-steatohepatitis-in-the-united-states
#15
Osama Siddique, Mairin Joseph-Talreja, Eric R Yoo, Ryan B Perumpail, George Cholankeril, Stephen A Harrison, Zobair M Younossi, Robert J Wong, Aijaz Ahmed
Background and Aims: Nonalcoholic steatohepatitis (NASH) is the most rapidly growing indication for liver transplantation (LT) in the United States and is on a trajectory to become the leading indication for LT in the next decade. We aimed to study the trends in NASH-related LT among persons born between 1945 and 1965, the baby boomer (BB) generation. Methods: We performed a retrospective cohort analysis using population-based data from the United Network for Organ Sharing/Organ Procurement and Transplantation Network registry from 2004-2015 to evaluate the birth cohort-specific trends in liver transplant waitlist registrations and liver transplant surgeries in patients with NASH...
September 28, 2017: Journal of Clinical and Translational Hepatology
https://www.readbyqxmd.com/read/28935754/pervasive-genome-wide-transcription-in-the-organelle-genomes-of-diverse-plastid-bearing-protists
#16
Matheus Sanitá Lima, David Roy Smith
Organelle genomes are among the most sequenced kinds of chromosome. This is largely because they are small and widely used in molecular studies, but also because next-generation sequencing (NGS) technologies made sequencing easier, faster, and cheaper. However, studies of organelle RNA have not kept pace with those of DNA, despite huge amounts of freely available eukaryotic RNA-sequencing (RNA-seq) data. Little is known about organelle transcription in non-model species, and most of the available eukaryotic RNA-seq data have not been mined for organelle transcripts...
September 21, 2017: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/28935708/unraveling-transcriptome-dynamics-in-human-spermatogenesis
#17
S Z Jan, T L Vormer, A Jongejan, M Röling, S J Silber, D G de Rooij, G Hamer, S Repping, A M M van Pelt
Spermatogenesis is a dynamic developmental process that includes stem cell proliferation and differentiation, meiotic cell divisions and extreme chromatin condensation. Although studied in mice, the molecular control of human spermatogenesis is largely unknown. Here, we developed a protocol that enables next generation sequencing of RNA obtained from pools of 500 individually laser capture microdissected cells of specific germ cell-subtypes from fixed human testis samples. Transcriptomic analyses of these successive germ cell subtypes reveals dynamic transcription of over 4000 genes during human spermatogenesis...
September 21, 2017: Development
https://www.readbyqxmd.com/read/28935667/upregulation-of-herv-k-is-linked-to-immunity-and-inflammation-in-pulmonary-arterial-hypertension
#18
Toshie Saito, Kazuya Miyagawa, Shih-Yu Chen, Rasa Tamosiuniene, Lingli Wang, Orr Sharp, Erik Samayoa, Daisuke Harada, Jan-Renier A J Moonen, Aiqin Cao, Pin-I Chen, Jan K Hennigs, Mingxia Gu, Caiyun G Li, Ryan D Leib, Dan Li, Christopher M Adams, Patricia A Del Rosario, Matthew A Bill, Francois Haddad, Jose G Montoya, William Robinson, Wendy J Fantl, Garry P Nolan, Roham T Zamanian, Mark R Nicolls, Charles Y Chiu, Maria E Ariza, Marlene Rabinovitch
Background -Immune dysregulation has been linked to occlusive vascular remodeling in pulmonary arterial hypertension (PAH) that is hereditary, idiopathic or associated with other conditions. Circulating autoantibodies, lung perivascular lymphoid tissue and elevated cytokines have been related to PAH pathogenesis but without clear understanding of how these abnormalities are initiated, perpetuated and connected in the progression of disease. We therefore set out to identify specific target antigens in PAH lung immune complexes as a starting point toward resolving these issues to better inform future application of immunomodulatory therapies...
September 21, 2017: Circulation
https://www.readbyqxmd.com/read/28935612/use-of-aflp-for-the-study-of-eukaryotic-pathogens-affecting-humans
#19
REVIEW
Carlos M Restrepo, Alejandro Llanes, Ricardo Lleonart
Amplified fragment length polymorphism (AFLP) is a genotyping technique based on PCR amplification of specific restriction fragments from a particular genome. The methodology has been extensively used in plant biology to solve a variety of scientific questions, including taxonomy, molecular epidemiology, systematics, population genetics, among many others. The AFLP share advantages and disadvantages with other types of molecular markers, being particularly useful in organisms with no previous DNA sequence knowledge...
September 18, 2017: Infection, Genetics and Evolution
https://www.readbyqxmd.com/read/28935392/transcriptome-analysis-of-paecilomyces-hepiali-at-different-growth-stages-and-culture-additives-to-reveal-putative-genes-in-cordycepin-biosynthesis
#20
Fang Pang, Linping Wang, Yu Jin, Lanping Guo, Lipu Song, Guiming Liu, Chengqiang Feng
Paecilomyces hepialid (PH) is an endoparasitic fungus of Cordyceps sinensis (CS) and has become a substitute for CS due to their similar pharmacological activities. Because the market demand for CS is difficult to satisfy, and cordycepin, the effective compound of CS, is difficult to industrially produce, we produced 5 samples of PH by culturing for different durations and adding different additives to the culture broth, and detected their cordycepin content with UPLC ESI MS/MS. Then we grouped these cultures into five transcriptome comparisons containing 3 time variable groups and 2 additive variable groups...
September 18, 2017: Genomics
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