High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome

Autor: Yu Chang Wang, Dorothée Bouron-Dal Soglio, Kristine L. Doyle, Dunarel Badescu, Saskia M. J. Hopman, Jiannis Ragoussis, Evan Weber, Barbara Rivera, John R. Priest, Charlotte Engelenberg, Timothée Revil, Aparna Ramasubramanian, Linus Forsmark, Antonia H. M. Bouts, Johannes H. M. Merks, Mona Wu, Johanna M. van Hagen, Nelly Sabbaghian, William D. Foulkes, Tonja Toler, Claudio Sandoval, David A. Plager, Janine Callahan, Leanne de Kock

Publikováno v: Journal of Medical Genetics, 53(1), 43-52. BMJ Publishing Group
Journal of medical genetics, 53(1), 43-52. BMJ Publishing Group
Journal of Medical Genetics, 53(1), 43. BMJ Publishing Group
de Kock, L, Wang, Y C, Revil, T, Badescu, D, Rivera, B, Sabbaghian, N, Wu, M, Weber, E, Sandoval, C, Hopman, S M J, Merks, J H M, van Hagen, J M, Bouts, A H M, Plager, D A, Ramasubramanian, A, Forsmark, L, Doyle, K L, Toler, T, Callahan, J, Engelenberg, C, Bouron-Dal Soglio, D, Priest, J R, Ragoussis, J & Foulkes, W D 2016, ' High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome ', Journal of Medical Genetics, vol. 53, no. 1, pp. 43-52 . https://doi.org/10.1136/jmedgenet-2015-103428

Background Somatic mosaicism is being increasingly recognised as an important cause of non-Mendelian presentations of hereditary syndromes. A previous whole-exome sequencing study using DNA derived from peripheral blood identified mosaic mutations in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95c57d2dd8897b54cde16e7c2bf49b42
https://doi.org/10.1136/jmedgenet-2015-103428

Abstract 5119: Customizable all-in-one cancer panels to detect copy number variation, DNA rearrangement and mutations by targeted NGS

Autor: Tracy Liu, Carlos Pabon, Bahram Arezi, Ashutosh Ashutosh, Jimmy Jin, Heather Tao, Gilbert Amparo, Jayati Ghosh, Arjun Vadapalli, Akansha Khare, Linus Forsmark, Christian A. Le Cocq, Michael Ruvolo, Douglas N. Roberts

Publikováno v: Cancer Research. 79:5119-5119

Background: The current standard of genomic profiling of cancer tissues relies upon multiple separate technologies to aid in tumor characterization. Here we describe a customizable NGS design and analysis workflow for cancer samples that can detect s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f5fedcd07b1520d44680073415531faf
https://doi.org/10.1158/1538-7445.am2019-5119

Abstract 4897: Accurate variant detection using molecular barcodes

Autor: Charmian Cher, Magnus Isaksson, Holly H. Hogrefe, Katie Leigh Zobeck, Henrik Johansson, Linus Forsmark, Javelin Chi

Publikováno v: Cancer Research. 75:4897-4897

HaloPlex is an amplicon based method for targeted sequencing. The protocol utilizes specificity gained from restriction enzyme recognition, hybridization and DNA ligation to capture molecules originating from the target region to be sequenced. The ta

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::73ae0246dd161b4a34c72e5004adf18d
https://doi.org/10.1158/1538-7445.am2015-4897