Zobrazeno 1 - 10
of 33
pro vyhledávání: '"Sergii Ivakhno"'
Autor:
Alison J. Coffey, Alka Malhotra, Bryan R. Lajoie, Egor Dolzhenko, Denise L. Perry, Alicia Scocchia, R. Tanner Hagelstrom, Amirah Khouzam, Ryan J. Taft, Vani Rajan, Tina Hambuch, Stephen Tanner, Natasa Dzidic, Shimul Chowdhury, Andrew M. Gross, Trilochan Sahoo, Eric Roller, Subramanian S. Ajay, Erin Thorpe, Nicole J. Burns, Karine Hovanes, Sergii Ivakhno, David R. Bentley, Julia McEachern, Michael A. Eberle, Carolyn Brown, John W Belmont, Aditi Chawla, Krista Bluske
Publikováno v:
Genetics in Medicine
Purpose Current diagnostic testing for genetic disorders involves serial use of specialized assays spanning multiple technologies. In principle, genome sequencing (GS) can detect all genomic pathogenic variant types on a single platform. Here we eval
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3ecb31e85cff844f73337a67a065224
https://doi.org/10.1038/s41436-018-0295-y
https://doi.org/10.1038/s41436-018-0295-y
Autor:
Sergii, Ivakhno, Eric, Roller
Publikováno v:
Methods in molecular biology (Clifton, N.J.). 1833
Versatile and efficient variant calling tools are needed to analyze large-scale sequencing datasets. In particular, identification of copy number changes remains a challenging task due to their complexity, susceptibility to sequencing biases, variati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6674321d7079340a3e8564a571cf3fa0
https://pubmed.ncbi.nlm.nih.gov/30039371
https://pubmed.ncbi.nlm.nih.gov/30039371
Copy number variants in clinical WGS: deployment and interpretation for rare and undiagnosed disease
Autor:
Krista Bluske, Carolyn Brown, Trilochan Sahoo, Alison J. Coffey, Andrew M. Gross, Michael A. Eberle, Rajan, Amirah Khouzam, Ryan J. Taft, Egor Dolzhenko, Natasa Dzidic, Erin Thorpe, Alka Malhotra, Denise L. Perry, Aditi Chawla, Julia McEachern, John W Belmont, Eric Roller, Nicole J. Burns, Sergii Ivakhno, David R. Bentley, Karine Hovanes, Bryan R. Lajoie, Tina Hambuch, Stephen Tanner, Subramanian S. Ajay, Alicia Scocchia, R. Tanner Hagelstrom, Shimul Chowdhury
PurposeCurrent diagnostic testing for genetic disorders involves serial use of specialized assays spanning multiple technologies. In principle, whole genome sequencing (WGS) has the potential to detect all genomic mutation types on a single platform
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3952c7a94c271aa8dd0b0d5c309cb1cb
Autor:
Sergii Ivakhno, Eric Roller
Publikováno v:
Methods in Molecular Biology ISBN: 9781493986651
Versatile and efficient variant calling tools are needed to analyze large-scale sequencing datasets. In particular, identification of copy number changes remains a challenging task due to their complexity, susceptibility to sequencing biases, variati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3c2acf520342d5ed96b06f01558f8880
https://doi.org/10.1007/978-1-4939-8666-8_12
https://doi.org/10.1007/978-1-4939-8666-8_12
Autor:
Stephen Tanner, Stefano Berri, Sergii Ivakhno, Anthony J. Cox, Camilla Colombo, Philip Tedder
Publikováno v:
Bioinformatics. 33:280-282
MotivationLarge-scale rearrangements and copy number changes combined with different modes of cloevolution create extensive somatic genome diversity, making it difficult to develop versatile and scalable oriant calling tools and create well-calibrate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fbdf6ffaeec802d425b0d4e0460a0d81
https://doi.org/10.1093/bioinformatics/btw589
https://doi.org/10.1093/bioinformatics/btw589
Publikováno v:
Bioinformatics (Oxford, England). 34(3)
MotivationWhole genome sequencing is becoming a diagnostics of choice for the identification of rare inherited and de novo copy number variants in families with various pediatric and late-onset genetic diseases. However, joint variant calling in pedi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81b30b71ceb8e585ab19b01956666dde
https://pubmed.ncbi.nlm.nih.gov/29028893
https://pubmed.ncbi.nlm.nih.gov/29028893
Publikováno v:
Bioinformatics (Oxford, England). 32(15)
Motivation: Versatile and efficient variant calling tools are needed to analyze large scale sequencing datasets. In particular, identification of copy number changes remains a challenging task due to their complexity, susceptibility to sequencing bia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae0c9125888113807855cdc72f05db4c
https://pubmed.ncbi.nlm.nih.gov/27153601
https://pubmed.ncbi.nlm.nih.gov/27153601
Autor:
Graham R. Bignell, Thomas R. Connor, Ludmil B. Alexandrov, Lisa Murray, Sean Humphray, Bee Ling Ng, Geoffrey Paul Smith, Wendy S.W. Wong, Zemin Ning, Michael R. Stratton, Shujun Luo, Zhi-Ping Feng, Anthony J. Cox, Peter J. Campbell, Philip Tedder, Albert J. Vilella, Niall Anthony Gormley, David J. McBride, Simon R. Harris, Keiran Raine, Bronwen Aken, Elizabeth P. Murchison, R. Keira Cheetham, Carolyn Tregidgo, Matthew M. Hims, P. Andrew Futreal, Sergii Ivakhno, Dirk J. Evers, Markus J. Bauer, Isabelle Rasolonjatovo, Yong Gu, Zoya Kingsbury, Simon D. M. White, William Cheng, Fengtang Yang, Anne-Maree Pearse, Amber E. Alsop, Beiyuan Fu, Gregory M. Woods, Gary P. Schroth, Stephen M. J. Searle, Kevin Hall, Mark Kowarsky, David R. Bentley, David C. Wedge, Irina Khrebtukova, Ole Schulz-Trieglaff, Jennifer Becq, Caitlin Stewart, Nigel P. Carter, Richard Shaw, John Marshall, Alexandre Kreiss, Zhihao Ding, Anthony T. Papenfuss, Russell J. Grocock
Publikováno v:
Cell
Summary The Tasmanian devil (Sarcophilus harrisii), the largest marsupial carnivore, is endangered due to a transmissible facial cancer spread by direct transfer of living cancer cells through biting. Here we describe the sequencing, assembly, and an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd7569c1e9d8f2b6e974e32cc2b7c49c
Publikováno v:
Bioinformatics. 26:3051-3058
Motivation: Copy number abnormalities (CNAs) represent an important type of genetic mutation that can lead to abnormal cell growth and proliferation. New high-throughput sequencing technologies promise comprehensive characterization of CNAs. In contr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a43b0085847504722970c5f01d5f1dda
https://doi.org/10.1093/bioinformatics/btq587
https://doi.org/10.1093/bioinformatics/btq587
Autor:
K. de Mora, Andrew J. Millar, J. Wilson, László Kozma-Bognár, Sergii Ivakhno, Judith Nicholson, Jelena Aleksic, S. L. Seshasayee, Farid Bizzari, Hongwu Ma, Alistair Elfick, Bryony Davidson, Christopher E. French, Yizhi Cai
Publikováno v:
IET Synthetic Biology. 1:87-90
We sought to develop a whole-cell biosensor for the detection of arsenic in drinking water, a major problem in Bangladesh and West Bengal. In contrast to previously described systems, our biosensor would give a pH change as output, allowing simple de
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a17f71a81ec892ca6b0ed2fbe3907904
https://doi.org/10.1049/iet-stb:20060002
https://doi.org/10.1049/iet-stb:20060002