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Next-generation sequencing

Detection of KRAS mutations in liquid biopsies from metastatic colorectal cancer patients using droplet digital PCR, Idylla, and next generation sequencing

Matilda Holm, Emma Andersson, Emerik Osterlund, Ali Ovissi, Leena-Maija Soveri, Anna-Kaisa Anttonen, Soili Kytölä, Kristiina Aittomäki, Pia Osterlund, Ari Ristimäki

published 25 Nov 2020

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Blood group typing from whole-genome sequencing data

Julien Paganini, Peter L. Nagy, Nicholas Rouse, Philippe Gouret, Jacques Chiaroni, Chistophe Picard, Julie Di Cristofaro

published 12 Nov 2020

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Lymphoplasmacytic lymphoma associated with diffuse large B-cell lymphoma: Progression or divergent evolution?

Macarena Boiza-Sánchez, Rebeca Manso, Olga Balagué, Cristina Chamizo, Elham Askari, Rocío Nieves Salgado, Carlos Blas-López, Elena Aguirregoicoa-García, Javier Menárguez, Carlos Santonja, Magdalena Adrados, Miguel Ángel Limeres-González, Miguel Ángel Piris, Socorro María Rodríguez-Pinilla

published 12 Nov 2020

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A machine learning-based treatment prediction model using whole genome variants of hepatitis C virus

Hiroaki Haga, Hidenori Sato, Ayumi Koseki, Takafumi Saito, Kazuo Okumoto, Kyoko Hoshikawa, Tomohiro Katsumi, Kei Mizuno, Taketo Nishina, Yoshiyuki Ueno

published 05 Nov 2020

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RNase H-dependent PCR enables highly specific amplification of antibody variable domains from single B-cells

John Crissman, Yuhao Lin, Kevin Separa, Madeleine Duquette, Michael Cohen, Candyd Velasquez, Thomas Cujec

published 05 Nov 2020

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Search for viral agents in cerebrospinal fluid in patients with multiple sclerosis using real-time PCR and metagenomics

Karol Perlejewski, Iwona Bukowska-Ośko, Małgorzata Rydzanicz, Tomasz Dzieciątkowski, Beata Zakrzewska-Pniewska, Aleksandra Podlecka-Piętowska, Agata Filipiak, Krzysztof Barć, Kamila Caraballo Cortés, Agnieszka Pawełczyk, Marek Radkowski, Tomasz Laskus

published 28 Oct 2020

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Clinical performance and utility of a comprehensive next-generation sequencing DNA panel for the simultaneous analysis of variants, TMB and MSI for myeloid neoplasms

Nikhil Shri Sahajpal, Ashis K. Mondal, Sudha Ananth, Allan Njau, Pankaj Ahluwalia, Kimya Jones, Meenakshi Ahluwalia, Nwogbo Okechukwu, Natasha M. Savage, Vamsi Kota, Amyn M. Rojiani, Ravindra Kolhe

published 19 Oct 2020

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Novel variant in the CNNM2 gene associated with dominant hypomagnesemia

Alejandro García-Castaño, Leire Madariaga, Montserrat Antón-Gamero, Natalia Mejia, Jenny Ponce, Sara Gómez-Conde, Gustavo Pérez de Nanclares, Ana Belén De la Hoz, Rosa Martínez, Laura Saso, Idoia Martínez de LaPiscina, Inés Urrutia, Olaia Velasco, Aníbal Aguayo, Luis Castaño, Sonia Gaztambide

published 30 Sep 2020

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Sensitive and reliable evaluation of single-cut sgRNAs to restore dystrophin by a GFP-reporter assay

Pin Lyu, Kyung Whan Yoo, Manish Kumar Yadav, Anthony Atala, Annemieke Aartsma-Rus, Maaike van Putten, Dongsheng Duan, Baisong Lu

published 24 Sep 2020

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Genetic testing offer for inherited neuromuscular diseases within the EURO-NMD reference network: A European survey study

Borut Peterlin, Francesca Gualandi, Ales Maver, Serenella Servidei, Silvère M. van der Maarel, Francoise Lamy, Alexander Mejat, Teresinha Evangelista, Alessandra Ferlini

published 18 Sep 2020

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Evaluation of molecular inversion probe versus TruSeq® custom methods for targeted next-generation sequencing

Rowida Almomani, Margherita Marchi, Maurice Sopacua, Patrick Lindsey, Erika Salvi, Bart de Koning, Silvia Santoro, Stefania Magri, Hubert J. M. Smeets, Filippo Martinelli Boneschi, Rayaz R. Malik, Dan Ziegler, Janneke G. J. Hoeijmakers, Gidon Bönhof, Sulayman Dib-Hajj, Stephen G. Waxman, Ingemar S. J. Merkies, Giuseppe Lauria, Catharina G. Faber, Monique M. Gerrits, on behalf on the PROPANE Study Group

published 02 Sep 2020

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A genetic analysis of a Spanish population with early onset Parkinson’s disease

Tejera-Parrado Cristina, Mir Pablo, Periñán María Teresa, Vela-Desojo Lydia, Abreu-Rodríguez Irene, Alonso-Cánovas Araceli, Bernal-Bernal Inmaculada, Bonilla-Toribio Marta, Buiza-Rueda Dolores, Catalán-Alonso María José, García-Ramos Rocío, García-Ruiz Pedro José, Huertas-Fernández Ismael, Jesús Silvia, Miguel A-Espinosa Labrador, López-Manzanares Lydia, Martínez-Castrillo Juan Carlos, Ignacio J. Posada, Rojo-Sebastián Ana, Ruiz-Huete Cristina, Del Val Javier, Pilar Gómez-Garre

published 01 Sep 2020

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The clinical significance of stringent complete response in multiple myeloma is surpassed by minimal residual disease measurements

Maria-Teresa Cedena, Estela Martin-Clavero, Sandy Wong, Nina Shah, Natasha Bahri, Rafael Alonso, Carmen Barcenas, Antonio Valeri, Johny Salazar Tabares, Jose Sanchez-Pina, Clara Cuellar, Thomas Martin, Jeffrey Wolf, Juan-Jose Lahuerta, Joaquin Martinez-Lopez

published 31 Aug 2020

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