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Next-generation sequencing

Analytical validation and performance characteristics of a 48-gene next-generation sequencing panel for detecting potentially actionable genomic alterations in myeloid neoplasms

Sun Hee Rosenthal, Anna Gerasimova, [ ... ], Felicitas Lacbawan

Faecalibacterium prausnitzii increases following fecal microbiota transplantation in recurrent Clostridioides difficile infection

Olle Björkqvist, Ignacio Rangel, [ ... ], Malin Bergman-Jungeström

BH₄-deficient hyperphenylalaninemia in Russia

Polina Gundorova, Irina A. Kuznetcova, [ ... ], Aleksander V. Polyakov

The diagnostic accuracy of digital PCR, ARMS and NGS for detecting KRAS mutation in cell-free DNA of patients with colorectal cancer: A systematic review and meta-analysis

Peng Ye, Peiling Cai, Jing Xie, Yuanyuan Wei

De novo identification and targeted sequencing of SSRs efficiently fingerprints Sorghum bicolor sub-population identity

John P. Baggett, Richard L. Tillett, Elizabeth A. Cooper, Melinda K. Yerka

Clinical benefit for clinical sequencing using cancer panel testing

Sadaaki Nishimura, Atsushi Sugimoto, [ ... ], Masakazu Yashiro

Development of a program for in silico optimized selection of oligonucleotide-based molecular barcodes

In Seok Yang, Sang Won Bae, BeumJin Park, Sangwoo Kim

Cell-free DNA in spent culture medium effectively reflects the chromosomal status of embryos following culturing beyond implantation compared to trophectoderm biopsy

Akihiro Shitara, Kazumasa Takahashi, [ ... ], Yukihiro Terada

Development and validation of a multigene variant profiling assay to guide targeted and immuno therapy selection in solid tumors

Dadasaheb Akolkar, Darshana Patil, [ ... ], Rajan Datar

Targeted next-generation sequencing-based detection of microsatellite instability in colorectal carcinomas

Yunbeom Lee, Ji Ae Lee, [ ... ], Gyeong Hoon Kang

Circulating exosomal microRNA expression patterns distinguish cardiac sarcoidosis from myocardial ischemia

Elliott D. Crouser, Mark W. Julian, [ ... ], Kai Wang

Aptamarker prediction of brain amyloid-β status in cognitively normal individuals at risk for Alzheimer’s disease

Gregory Penner, Soizic Lecocq, [ ... ], for the Alzheimer Precision Medicine Initiative (APMI)

Economic impact of medical genetic testing on clinical applications in Thailand

Jiraphun Jittikoon, Sermsiri Sangroongruangsri, [ ... ], Usa Chaikledkaew

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