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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, [ ... ], Ari Ristimäki

Blood group typing from whole-genome sequencing data

Julien Paganini, Peter L. Nagy, [ ... ], Julie Di Cristofaro

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

Macarena Boiza-Sánchez, Rebeca Manso, [ ... ], Socorro María Rodríguez-Pinilla

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

Hiroaki Haga, Hidenori Sato, [ ... ], Yoshiyuki Ueno

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

John Crissman, Yuhao Lin, [ ... ], Thomas Cujec

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

Karol Perlejewski, Iwona Bukowska-Ośko, [ ... ], Tomasz Laskus

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, [ ... ], Ravindra Kolhe

Novel variant in the CNNM2 gene associated with dominant hypomagnesemia

Alejandro García-Castaño, Leire Madariaga, [ ... ], Sonia Gaztambide

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

Pin Lyu, Kyung Whan Yoo, [ ... ], Baisong Lu

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

Borut Peterlin, Francesca Gualandi, [ ... ], Alessandra Ferlini

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

Rowida Almomani, Margherita Marchi, [ ... ], on behalf on the PROPANE Study Group

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

Tejera-Parrado Cristina, Mir Pablo, [ ... ], Pilar Gómez-Garre

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

Maria-Teresa Cedena, Estela Martin-Clavero, [ ... ], Joaquin Martinez-Lopez

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