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Mutation detection

Estimating Exceptionally Rare Germline and Somatic Mutation Frequencies via Next Generation Sequencing

Jordan Eboreime, Soo-Kung Choi, [ ... ], Peter Calabrese

Diagnostic Accuracy of PIK3CA Mutation Detection by Circulating Free DNA in Breast Cancer: A Meta-Analysis of Diagnostic Test Accuracy

Yidong Zhou, Changjun Wang, [ ... ], Qiang Sun

Ten Novel Mutations in Chinese Patients with Megalencephalic Leukoencephalopathy with Subcortical Cysts and a Long-Term Follow-Up Research

Binbin Cao, Huifang Yan, [ ... ], Jingmin Wang

Identification of a Novel NLRP12 Nonsense Mutation (Trp408X) in the Extremely Rare Disease FCAS by Exome Sequencing

Xiaoru Xia, Caijun Dai, [ ... ], Liangxing Wang

De Novo Assembly of Human Herpes Virus Type 1 (HHV-1) Genome, Mining of Non-Canonical Structures and Detection of Novel Drug-Resistance Mutations Using Short- and Long-Read Next Generation Sequencing Technologies

Timokratis Karamitros, Ian Harrison, [ ... ], Jean Lutamyo Mbisa

Clinicopathologic and Molecular Features of Colorectal Adenocarcinoma with Signet-Ring Cell Component

Qing Wei, Xicheng Wang, [ ... ], Lin Shen

SQSTM1 Mutations and Glaucoma

Todd E. Scheetz, Ben R. Roos, [ ... ], John H. Fingert

Multiplex Assay for Simultaneous Detection of Mycoplasma genitalium and Macrolide Resistance Using PlexZyme and PlexPrime Technology

Sepehr N. Tabrizi, Lit Y. Tan, [ ... ], Suzanne M. Garland

MGMT Promoter Methylation and BRAF V600E Mutations Are Helpful Markers to Discriminate Pleomorphic Xanthoastrocytoma from Giant Cell Glioblastoma

Laura-Nanna Lohkamp, Maren Schinz, [ ... ], Arend Koch

Multiplex Real-Time PCR Assays that Measure the Abundance of Extremely Rare Mutations Associated with Cancer

Diana Y. Vargas, Fred Russell Kramer, Sanjay Tyagi, Salvatore A. E. Marras

Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism

Dèlia Yubero, Núria Brandi, [ ... ], Working Group

High-Efficiency Capture of Drug Resistant-Influenza Virus by Live Imaging of Sialidase Activity

Yuuki Kurebayashi, Tadanobu Takahashi, [ ... ], Takashi Suzuki

Global Carrier Rates of Rare Inherited Disorders Using Population Exome Sequences

Kohei Fujikura

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