Need for speed in accurate whole-genome data analysis : GENALICE MAP challenges BWA/GATK more than PEMapper/PECaller and Isaac

Autor: Plüss, Michel, Kopps, Anna M., Keller, Irene, Meienberg, Janine, Caspar, Sylvan M., Dubacher, Nicolo, Bruggmann, Rémy, Vogel, Manfred, Matyas, Gabor

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America, 2017 Oct 01. 114(40), E8320-E8322.

Externí odkaz: https://www.jstor.org/stable/26488139

Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies

Autor: Beat Steinmann, Gabor Matyas, Janine Meienberg, Sylvan M. Caspar, Marianne Rohrbach, Arash Najafi

Publikováno v: Clinical Genetics

Genome‐scale high‐throughput sequencing enables the detection of unprecedented numbers of sequence variants. Variant filtering and interpretation are facilitated by mutation databases, in silico tools, and population‐based reference datasets su

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12a5630831c3ceee4127463add9491f7
https://doi.org/10.1111/cge.13640

Remarks on NGOs to CAMDUN-1

Autor: Sylvan M. Barnet

Publikováno v: Building A More Democratic UNITED NATIONS ISBN: 9781003062493

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a885e18bddd3fe7daf3573f49c0fe47b
https://doi.org/10.4324/9781003062493-32

Added Value of Clinical Sequencing: WGS-Based Profiling of Pharmacogenes

Autor: Sylvan M. Caspar, Gabor Matyas, Janine Meienberg, Timo Schneider

Publikováno v: International Journal of Molecular Sciences, Vol 21, Iss 7, p 2308 (2020)
International Journal of Molecular Sciences
Volume 21
Issue 7
International Journal of Molecular Sciences, 21 (7)

Although several pharmacogenetic (PGx) predispositions affecting drug efficacy and safety are well established, drug selection and dosing as well as clinical trials are often performed in a non-pharmacogenetically-stratified manner, ultimately burden

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d0e79acfd060aef6fecd9a9e8f4eacc

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