Zobrazeno 1 - 10
of 146
pro vyhledávání: '"Jean-Pierre A Kocher"'
Publikováno v:
PLoS ONE, Vol 9, Iss 2, p e86803 (2014)
As the cost of whole genome sequencing (WGS) decreases, clinical laboratories will be looking at broadly adopting this technology to screen for variants of clinical significance. To fully leverage this technology in a clinical setting, results need t
Externí odkaz:
https://doaj.org/article/4c8deef481c04a2a81f78c1e99428dc9
Publikováno v:
PLoS ONE, Vol 9, Iss 4, p e95783 (2014)
Studies have shown concurrent loss of heterozygosity (LOH) in breast infiltrating ductal carcinoma (IDC) and adjacent or distant normal tissue. However, the overall extent of LOH in normal tissue and their significance to tumorigenesis remain unknown
Externí odkaz:
https://doaj.org/article/a1cceae51dbb4efe857945d5850971df
Autor:
Steven N Hart, Vivekananda Sarangi, Raymond Moore, Saurabh Baheti, Jaysheel D Bhavsar, Fergus J Couch, Jean-Pierre A Kocher
Publikováno v:
PLoS ONE, Vol 8, Iss 12, p e83356 (2013)
BACKGROUND: Structural variation (SV) represents a significant, yet poorly understood contribution to an individual's genetic makeup. Advanced next-generation sequencing technologies are widely used to discover such variations, but there is no single
Externí odkaz:
https://doaj.org/article/15e3a2cf33274b24aa741291a8b1456b
Autor:
Zhifu Sun, Yan W Asmann, Asha Nair, Yuji Zhang, Liguo Wang, Krishna R Kalari, Aditya V Bhagwate, Tiffany R Baker, Jennifer M Carr, Jean-Pierre A Kocher, Edith A Perez, E Aubrey Thompson
Publikováno v:
PLoS ONE, Vol 8, Iss 8, p e71745 (2013)
OBJECTIVES: The sequencing by the PolyA selection is the most common approach for library preparation. With limited amount or degraded RNA, alternative protocols such as the NuGEN have been developed. However, it is not yet clear how the different li
Externí odkaz:
https://doaj.org/article/4ad6a5cd7dec4f538b7e1b0e26dc1fad
Publikováno v:
PLoS ONE, Vol 7, Iss 2, p e31628 (2012)
Runs of homozygosity (ROH) represents extended length of homozygotes on a long genomic distance. In oncology, it is known as loss of heterozygosity (LOH) if identified exclusively in cancer cell rather than in matched control cell. Studies have ident
Externí odkaz:
https://doaj.org/article/67dd3da950a944649ac27ad4a1dcbc71
Autor:
Katharina E. Meijboom, Abbas Abdallah, Nicholas P. Fordham, Hiroko Nagase, Tomás Rodriguez, Carolyn Kraus, Tania F. Gendron, Gopinath Krishnan, Rustam Esanov, Nadja S. Andrade, Matthew J. Rybin, Melina Ramic, Zachary D. Stephens, Alireza Edraki, Meghan T. Blackwood, Aydan Kahriman, Nils Henninger, Jean-Pierre A. Kocher, Michael Benatar, Michael H. Brodsky, Leonard Petrucelli, Fen-Biao Gao, Erik J. Sontheimer, Robert H. Brown, Zane Zeier, Christian Mueller
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-17 (2022)
A hexanucleotide repeat expansion in C9ORF72 is the most common genetic cause of ALS and FTD. Here, the authors demonstrate CRISPR/Cas9 excision of the expansion results in a rescue of disease mechanisms in vivo and in vitro.
Externí odkaz:
https://doaj.org/article/3c12d94acb99423da250fefe20d4cde2
Autor:
Zachary Stephens, Dragana Milosevic, Benjamin Kipp, Stefan Grebe, Ravishankar K. Iyer, Jean-Pierre A. Kocher
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Long read sequencing technologies have the potential to accurately detect and phase variation in genomic regions that are difficult to fully characterize with conventional short read methods. These difficult to sequence regions include several clinic
Externí odkaz:
https://doaj.org/article/b11181a9f8864e89816d3eb364e98c24
Publikováno v:
BMC Medical Genomics, Vol 11, Iss S3, Pp 53-62 (2018)
Abstract Background RNA-seq is the most commonly used sequencing application. Not only does it measure gene expression but it is also an excellent media to detect important structural variants such as single nucleotide variants (SNVs), insertion/dele
Externí odkaz:
https://doaj.org/article/3eb71a09ffab4b49840fb45923001f43
Autor:
Liguo Wang, Han Liang, Jean-Pierre A. Kocher, Jeanette Eckel-Passow, Hon Sing Leong, Haojie Huang, Tao Ma, Ying Li, Haidong Dong, Zhenqing Ye
Purpose: Homozygous deletions play important roles in carcinogenesis. The genome-wide screening for homozygously deleted genes in many different cancer types with a large number of patient specimens representing the tumor heterogeneity has not been d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14e09231720d176b836d6b63003980f4
https://doi.org/10.1158/1078-0432.c.6526010
https://doi.org/10.1158/1078-0432.c.6526010
Autor:
Roman Thaler, Amel Dudakovic, Daniel J. Berry, Robert C. Cohen, Janet M. Denbeigh, Jean-Pierre A. Kocher, Eric A. Lewallen, David G. Lewallen, Asha Nair, Andre J. van Wijnen, Matthew P. Abdel, Wei Xu, William H. Trousdale, Jie J. Yao
Publikováno v:
Tissue Eng Part A
Metal orthopedic implants are largely biocompatible and generally achieve long-term structural fixation. However, some orthopedic implants may loosen over time even in the absence of infection. In vivo fixation failure is multifactorial, but the fund
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c817336200a96f3dd4f8ba9a17d79ad
https://doi.org/10.1089/ten.tea.2020.0369
https://doi.org/10.1089/ten.tea.2020.0369