Results 51 to 60 of about 910,209 (262)

Targeted phasing of 2–200 kilobase DNA fragments with a short-read sequencer and a single-tube linked-read library method

Scientific Reports
In the human genome, heterozygous sites refer to genomic positions with a different allele or nucleotide variant on the maternal and paternal chromosomes.
Veronika Mikhaylova, Madison Rzepka, Tetsuya Kawamura, Yu Xia, Peter L. Chang, Shiguo Zhou, Amber Paasch, Long Pham, Naisarg Modi, Likun Yao, Adrian Perez-Agustin, Sara Pagans, T. Christian Boles, Ming Lei, Yong Wang, Ivan Garcia-Bassets, Zhoutao Chen   +16 more
doaj   +1 more source

Ewing Sarcoma in Infants and Children Under 2 Years of Age: A French Retrospective Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Ewing sarcoma, the second most common primary bone cancer in children, requires intensive treatment that may lead to significant long‐term sequelae, particularly in infants. We retrospectively analyzed data from 1621 French patients treated between 1988 and 2015 within the EW88/93/97 or EE99 trials, focusing on 17 infants diagnosed before 24 ...
Elodie Verdier, Nathalie Cozic, Marie‐Dominique Tabone, Gaelle Pierron, Perrine Marec‐Berard, Sarah Winter, Gabriel Revon‐Rivière, Cyril Lervat, Dominique Plantaz, Marie‐Pierre Castex, Gregory Guimard, Estelle Thebaud, Stephanie Proust, Laure Saumet, Natacha Entz‐Werle, Sophie Taque, Cécile Vérité, Marta Jimenez, Nathalie Gaspar   +18 more
wiley   +1 more source

Demystifying the Discussion of Sequencing Panel Size in Oncology Genetic Testing

European Medical Journal, 2022
Clinical laboratories worldwide are implementing next-generation sequencing (NGS) to identify cancer genomic variants and ultimately improve patient outcomes. The ability to massively sequence the entire genome or exome of tumour cells has been critical
Cecília Durães, Carla Pereira Gomes, Jose Luis Costa, Luca Quagliata   +3 more
doaj   +1 more source

Survival After Hematopoietic Stem Cell Transplantation in Diamond–Blackfan Anemia Syndrome: The Role of Iron Overload—A Systematic Review

Pediatric Blood &Cancer, EarlyView.
ABSTRACT We assessed the effect of iron overload (IO) on mortality and complications following hematopoietic stem cell transplantation (HSCT) in patients with Diamond–Blackfan anemia syndrome (DBAS) in a systematic review of individual participant data and cohort data from observational studies.
Geoffrey Z. L. Kuppens, Evangelia Kiakou, Lieke de Zwart, Maurizio Miano, Eduard J. van Beers, Marc Bierings, Marije Bartels   +6 more
wiley   +1 more source

Assessment of Antibiotic Resistance and Efflux Pump Gene Expression in Neisseria Gonorrhoeae Isolates from South Africa by Quantitative Real-Time PCR and Regression Analysis

International Journal of Microbiology, 2022
Introduction. Treatment of gonorrhoea infection is limited by the increasing prevalence of multidrug-resistant strains. Cost-effective molecular diagnostic tests can guide effective antimicrobial stewardship.
Nireshni Mitchev, Ravesh Singh, Veron Ramsuran, Arshad Ismail, Mushal Allam, Stanford Kwenda, Florah Mnyameni, Nigel Garrett, Khine Swe Swe-Han, Abraham J. Niehaus, Koleka P. Mlisana   +10 more
doaj   +1 more source

From cheek swabs to consensus sequences : an A to Z protocol for high-throughput DNA sequencing of complete human mitochondrial genomes [PDF]

, 2014
Background: Next-generation DNA sequencing (NGS) technologies have made huge impacts in many fields of biological research, but especially in evolutionary biology. One area where NGS has shown potential is for high-throughput sequencing of complete mtDNA
Matisoo-Smith, Elizabeth A, Soria Hernanz, David F, Schurr, Theodore G., Stanton, Jo-Ann, Martínez-Cruz, Begoña, White, W. T., GaneshPrasad, Arun Kumar, Lacerda, Daniela R., Matisoo Smith, Elizabeth, White, W. Timothy J., Vilar, Miguel G., Platt, Daniel E., Parida, Laxmi, Hernanz, Soria, Martínez Cruz, Begoña, Kaplan, Matthew E., Clarke, Andrew, Schurr, Theodore G, Matisoo-Smith, Lisa, Matisoo-Smith, Elizabeth, Mitchell, R. John, Matthew E Kaplan, Vieira, Pedro Paulo, Jo-Ann L Stanton, Matisoo-Smith, Elizabeth A., Dulik, Matthew C., Zalloua, Pierre A., Kaplan, Matthew, Tyler-Smith, Chris, Kaplan, M., W Timothy J White, Santhakumari, Arun Varatharajan, Haak, Wolfgang, Quintana-Murci, Lluis, Stefan Prost, null null, Comas, David, Ziegle, Janet S., Swamikrishnan, Pandikumar, Kaplan, Matthew E, Wells, R. Spencer, HASH(0x55a67fb2a340), White, W Timothy J, Cooper, Alan, Clarke, Andrew C, Der Sarkissian, Clio S.I., The, Genographic Consortium, Stanton, J., Bertranpetit, Jaume, 1952-, White, W Timothy J., Stanton, Jo-Ann L., Stanton, Jo Ann L., Pitchappan, Ramasamy, Adhikarla, Syama, Santos, Fabrício R., Comas, David, 1969-, Haber, Marc; id_orcid, Soodyall, Himla, Royyuru, Ajay K., Prost, Stefan, Adler, Christina J., Renfrew, Colin, Jin, Li, Clark, Andrew, Elizabeth A Matisoo-Smith, Andrew C Clarke, Matisoo-Smith, E., Li, Shilin, The Genographic Consortium, Balanovsky, Oleg, Balanovska, Elena, Clarke, Andrew C., Prost, S., Merchant, Nirav C., Andrew C Clarke, Owings, Amanda C., Stanton, Jo-Ann L, White, W., Bertranpetit, Jaume, Gaieski, Jill B., Genographic Consortium, Haber, Marc, 1980-, Genographic Consortium,, Clarke, A.   +83 more
core   +1 more source

A Situational Assessment of the Diagnostic Landscape and Organizational Readiness to Implement Next‐Generation Sequencing at Two Childhood Cancer Treatment Centers in Ghana

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Purpose Next‐generation sequencing (NGS) has emerged as a promising approach to improve diagnostic accuracy, but its feasibility in low‐ and middle‐income countries remains unknown. This study characterized the diagnostic landscape and assessed organizational readiness for NGS implementation at two childhood cancer treatment centers in Accra ...
Melissa Carvalho, Emmanuella Amoako, Nihad Salifu, Lily Gloria Tagoe, Yaw Bediako, Michelle Hermiston, Catherine Segbefia   +6 more
wiley   +1 more source

Virtual Environment for Next Generation Sequencing Analysis [PDF]

, 2012
Next Generation Sequencing technology, on the one hand, allows a more accurate analysis, and, on the other hand, increases the amount of data to process.
Provenzano, R., Provenzano R., Terzo, Olivier, Mossucca, L., Acquaviva, Andrea, Mossucca L, Abate, Francesco   +6 more
core  

Bacterial epidemiology and biology--lessons from genome sequencing. [PDF]

, 2011
Next-generation sequencing has ushered in a new era of microbial genomics, enabling the detailed historical and geographical tracing of bacteria.
Wren, Brendan W, Parkhill, Julian, Julian Parkhill, Brendan W Wren   +3 more
core   +1 more source

Organoids in pediatric cancer research

FEBS Letters, EarlyView.
Organoid technology has revolutionized cancer research, yet its application in pediatric oncology remains limited. Recent advances have enabled the development of pediatric tumor organoids, offering new insights into disease biology, treatment response, and interactions with the tumor microenvironment.
Carla Ríos Arceo, Jarno Drost
wiley   +1 more source