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of 56
pro vyhledávání: '"Chee-Seng Ku"'
Beginning in 2009, the advent of exome sequencing has\ud contributed significantly towards new discoveries of heritable\ud germline mutations and de novo mutations for rare Mendelian\ud disorders with hitherto unknown genetic aetiologies.\ud Exome se
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f2204bd9201c085cc3532f79085b6a3
https://orca.cardiff.ac.uk/id/eprint/97369/1/Ku_PHG2016.pdf
https://orca.cardiff.ac.uk/id/eprint/97369/1/Ku_PHG2016.pdf
Publikováno v:
Innovation. 2011, Vol. 10 Issue 3, p50-53. 4p.
Autor:
Chee Seng Ku1 cmekcs@nus.edu.sg, En Yun Loy1, Yudi Pawitan2, Kee Seng Chia1,2 ephcks@nus.edu.sg
Publikováno v:
Journal of Human Genetics. Apr2010, Vol. 55 Issue 4, p195-206. 12p. 1 Diagram, 1 Graph.
Publikováno v:
Next-Generation Sequencing & Molecular Diagnostics. :42-62
Publikováno v:
Clinical Genetics. 83:2-6
The clinical application of next-generation sequencing (NGS) as a diagnostic tool has become increasingly evident. The coupling of NGS technologies with new genomic sequence enrichment methods has made the sequencing of panels of target genes technic
Autor:
Vita Dolzan, Chee-Seng Ku, Paolo Prontera, Paolo Fortina, Alessio Squassina, Angela Brand, Fahd Al-Mulla, Manousos E. Kambouris, Domenica Taruscio, Jennifer Livaudais-Toman, Valeria Mencarini, Rena J. Pasick, Jack Chang, Leah S. Karliner, Milan Macek, Lada Leyens, Susan L. Stewart, Satz Mengensatzproduktion, Alberto Verrotti, David Neil Cooper, Ann Dozier, Barbara Prainsack, Marc S. Williams, Giuseppe Di Cara, Dongmei Li, Robin Lee, Susan W. Groth, Amedea Mencarelli, Effy Vayena, Margaret Demment, George P. Patrinos, Ming Ta Michael Lee, Gabriela Stangoni, Celia P. Kaplan, Athanassios Vozikis, Galen Joseph, Ron H.N. van Schaik, Ilenia Isidori, Federico Innocenti, I. Diana Fernandez, Timothy D. Dye, Christina Mitropoulou, Druckerei Stückle, Guido Pennoni
Publikováno v:
Public Health Genomics. 19
Publikováno v:
Bioinformatics. 28:2711-2718
Motivation: Analysing next-generation sequencing (NGS) data for copy number variations (CNVs) detection is a relatively new and challenging field, with no accepted standard protocols or quality control measures so far. There are by now several algori
Autor:
Chee-Seng Ku, Dimitrios H Roukos
Publikováno v:
Annals of Surgical Oncology. 19:3646-3650
Revolutionary sequencing technologies have changed biomedical research and life science exponentially. Revealing the whole landscape of causal somatic and inherited mutations underlying individual patient's cancer sample by whole-genome sequencing (W
Autor:
Mengchu Wu, David Neil Cooper, Barry Iacopetta, Richie Soong, Chee-Seng Ku, Yudi Pawitan, Dimitrios H Roukos
Publikováno v:
Modern Pathology. 25:1055-1068
Recent advances in genotyping and sequencing technologies have provided powerful tools with which to explore the genetic basis of both Mendelian (monogenic) and sporadic (polygenic) diseases. Several hundred genome-wide association studies have so fa
Autor:
David Neil Cooper, Constantin Polychronakos, Matthew Mort, Yudi Pawitan, Chee-Seng Ku, Nasheen Naidoo, Eng-King Tan, Dimitrios H Roukos
Publikováno v:
Molecular Psychiatry. 18:141-153
The study of de novo point mutations (new germline mutations arising from the gametes of the parents) remained largely static until the arrival of next-generation sequencing technologies, which made both whole-exome sequencing (WES) and whole-genome