P626: Clinical utility of structural variant calling using breakpoint analysis method for targeted NGS gene panels
Koskinen, Lotta, Andreevskaya, Margarita, Muona, Mikko, Pietila, Tuuli, Djupsjöbacka, Janica, Kytölä, Ville, Kämpjärvi, Kati, Myllykangas, Samuel, Salmenperä, Pertteli, Koskenvuo, Juha, Valori, Miko
Published in Genetics in Medicine Open (2024)
Published in Genetics in Medicine Open (2024)
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Journal Article
P622: Genetic results in a cohort of 489 patients with inherited myopathies
Gall, Kim, Hathaway, Julie, Koskinen, Lotta, Alakurtti, Kirsi, Hagström, Äsa, Segura, Monica, Kuisma, Heli, Seppala, Eija, Djupsjöbacka, Janica, Muona, Mikko, Pietila, Tuuli, Salmenperä, Pertteli, Saarinen, Inka, Veeraraghavan, Ray, Myllykangas, Samuel, Koskenvuo, Juha
Published in Genetics in Medicine Open (2024)
Published in Genetics in Medicine Open (2024)
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Journal Article
P465: The occurrence of noncoding variants, copy number variants and variants in difficult-to-sequence genes in over 10,000 whole exome sequencing tests
Gall, Kimberly, Hathaway, Julie, Howell, Victoria, Scocchia, Alicia, Sluyters, Allison, Saarinen, Inka, Kangas-Kontio, Tiia, Kaare, Milja, Wells, Kirsty, Calvo del Castillo, Maria, Muona, Mikko, Pietila, Tuuli, Rantanen, Matias, Gentile, Massimiliano, Salmenperä, Pertelli, Paananen, Jussi, Myllykangas, Samuel, Koskenvuo, Juha
Published in Genetics in Medicine Open (2023)
Published in Genetics in Medicine Open (2023)
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Journal Article
Identification and validation of human papillomavirus encoded microRNAs
Qian, Kui, Pietilä, Tuuli, Rönty, Mikko, Michon, Frederic, Frilander, Mikko J, Ritari, Jarmo, Tarkkanen, Jussi, Paulín, Lars, Auvinen, Petri, Auvinen, Eeva
Published in PloS one (30.07.2013)
Published in PloS one (30.07.2013)
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Journal Article
Expression of BKV and JCV encoded microRNA in human cerebrospinal fluid, plasma and urine
Pietilä, Tuuli, Nummi, Maaret, Auvinen, Petri, Mannonen, Laura, Auvinen, Eeva
Published in Journal of clinical virology (01.04.2015)
Published in Journal of clinical virology (01.04.2015)
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Journal Article
Low expression levels of putative HPV encoded microRNAs in cervical samples
Virtanen, Elina, Pietilä, Tuuli, Nieminen, Pekka, Qian, Kui, Auvinen, Eeva
Published in SpringerPlus (22.10.2016)
Published in SpringerPlus (22.10.2016)
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Journal Article
eP351: Next-generation sequencing panels for cystic kidney disease with improvements for sequencing and alignment challenges
Hathaway, Julie, Scocchia, Alicia, Huusko, Johanna, Bernal, Manuel, Saarinen, Inka, Rantanen, Matias, Schleit, Jennifer, Kangas-Kontio, Tiia, Pietila, Tuuli, Salmenpera, Pertteli, Gentile, Massimiliano, Myllykangas, Samuel, Koskenvuo, Juha, Gall, Kim
Published in Genetics in medicine (01.03.2022)
Published in Genetics in medicine (01.03.2022)
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