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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, Charles Ma, Hai-Rong Li, Andrew Grupe, Hansook Chong, Allan Acab, Alla Smolgovsky, Renius Owen, Christopher Elzinga, Rebecca Chen, Daniel Sugganth, Tracey Freitas, Jennifer Graham, Kristen Champion, Anindya Bhattacharya, Frederick Racke, Felicitas Lacbawan

published 28 Apr 2021

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

Olle Björkqvist, Ignacio Rangel, Lena Serrander, Cecilia Magnusson, Jonas Halfvarson, Torbjörn Norén, Malin Bergman-Jungeström

published 09 Apr 2021

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BH₄-deficient hyperphenylalaninemia in Russia

Polina Gundorova, Irina A. Kuznetcova, Galina V. Baydakova, Anna A. Stepanova, Yulia S. Itkis, Victoria S. Kakaulina, Irina P. Alferova, Lidya V. Lyazina, Lilya P. Andreeva, Ilya Kanivets, Ekaterina Y. Zakharova, Sergey I. Kutsev, Aleksander V. Polyakov

published 06 Apr 2021

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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

published 26 Mar 2021

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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

published 08 Mar 2021

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Clinical benefit for clinical sequencing using cancer panel testing

Sadaaki Nishimura, Atsushi Sugimoto, Shuhei Kushiyama, Shingo Togano, Kenji Kuroda, Yurie Yamamoto, Makoto Yamauchi, Toshiyuki Sumi, Hiroyasu Kaneda, Tomoya Kawaguchi, Minoru Kato, Mizuki Tagami, Naoto Oebisu, Manabu Hoshi, Kenjiro Kimura, Shoji Kubo, Kazuya Muguruma, Tsutomu Takashima, Masaichi Ohira, Masakazu Yashiro

published 26 Feb 2021

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

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

published 18 Feb 2021

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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, Mayumi Goto, Harunori Takahashi, Takuya Iwasawa, Yohei Onodera, Kenichi Makino, Hiroshi Miura, Hiromitsu Shirasawa, Wataru Sato, Yukiyo Kumazawa, Yukihiro Terada

published 11 Feb 2021

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

Dadasaheb Akolkar, Darshana Patil, Navin Srivastava, Revati Patil, Vineet Datta, Sachin Apurwa, Nitin Yashwante, Raja Dhasarathan, Rahul Gosavi, Jinumary John, Shabishta Khan, Ninad Jadhav, Priti Mene, Dhanashri Ahire, Sushant Pawar, Harshal Bodke, Subhraline Sahoo, Arun Nile, Dinesh Saindane, Harshal Darokar, Pradip Devhare, Ajay Srinivasan, Rajan Datar

published 08 Feb 2021

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

Yunbeom Lee, Ji Ae Lee, Hye Eun Park, Hyojun Han, Yuhnam Kim, Jeong Mo Bae, Jung Ho Kim, Nam-Yun Cho, Hwang-Phill Kim, Tae-You Kim, Gyeong Hoon Kang

published 01 Feb 2021

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Circulating exosomal microRNA expression patterns distinguish cardiac sarcoidosis from myocardial ischemia

Elliott D. Crouser, Mark W. Julian, Sabahattin Bicer, Vikas Ghai, Taek-Kyun Kim, Lisa A. Maier, May Gillespie, Nabeel Y. Hamzeh, Kai Wang

published 26 Jan 2021

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

Gregory Penner, Soizic Lecocq, Anaëlle Chopin, Ximena Vedoya, Simone Lista, Andrea Vergallo, Enrica Cavedo, Francois-Xavier Lejeune, Bruno Dubois, Harald Hampel, the INSIGHT-preAD study group , for the Alzheimer Precision Medicine Initiative (APMI)

published 04 Jan 2021

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Economic impact of medical genetic testing on clinical applications in Thailand

Jiraphun Jittikoon, Sermsiri Sangroongruangsri, Montarat Thavorncharoensap, Natthakan Chitpim, Usa Chaikledkaew

published 18 Dec 2020

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