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Determination of novel CYP2D6 haplotype using the targeted sequencing followed by the long-read sequencing and the functional characterization in the Japanese population

författare

Masahiro Hiratsuka

Ken Kato

Takuji Okusaka

Masashi Ikeda

Nakao Iwata

publicerad i: Journal of Human Genetics

utgivningsår: 2020-08-05

Refererar artiklar 40

Datum

Titel

Författare

2019-12-09

PharmVar GeneFocus: CYP2D6

Charity Nofziger, Amy J Turner, Michelle Whirl-Carrillo, José Agundez, John L Black, Henry M. Dunnenberger, Martin Kennedy, Houda Hachad, Andrea Gaedigk
2019-10-24

Standardizing CYP2D6 Genotype to Phenotype Translation: Consensus Recommendations from the Clinical Pharmacogenetics Implementation Consortium and Dutch Pharmacogenetics Working Group

Jesse J Swen, Michelle Whirl-Carrillo
2019-06-18

3.5KJPNv2: an allele frequency panel of 3552 Japanese individuals including the X chromosome

Shu Tadaka, Gen Tamiya, Kengo Kinoshita, Atsushi Hozawa, Atsushi Shimizu
2019-09-01

Nanopore sequencing of the pharmacogene CYP2D6 allows simultaneous haplotyping and detection of duplications

Yusmiati Liau, Simran Maggo, Allison Miller, John Pearson, Martin Kennedy, Simone Cree
2019

Long-Read Sequencing Emerging in Medical Genetics

Alexander Hoischen
2018-07-03

GSTP1 rs1695 is associated with both hematological toxicity and prognosis of ovarian cancer treated with paclitaxel plus carboplatin combination chemotherapy: a comprehensive analysis using targeted resequencing of 100 pharmacogenes.

Daisuke Aoki
2018-07-18

Accurately genotyping CYP2D6: not for the faint of heart
2018-09-01

Minimap2: pairwise alignment for nucleotide sequences
2018-09-08

Functional characterization of 40 CYP2B6 allelic variants by assessing efavirenz 8-hydroxylation

Daisuke Saigusa, Jun Yasuda, Noriyasu Hirasawa
2017-11-14

The Pharmacogene Variation (PharmVar) Consortium: Incorporation of the Human Cytochrome P450 (CYP) Allele Nomenclature Database.

Magnus Ingelman-Sundberg, Michelle Whirl-Carrillo
2017-05-04

Sequencing the CYP2D6 gene: from variant allele discovery to clinical pharmacogenetic testing
2017-01-18

Flexible and Scalable Full-Length CYP2D6 Long Amplicon PacBio Sequencing

Henk-Jan Guchelaar, Jesse J Swen
2017-04-21

Functional characterization of wild-type and 24 CYP2D6 allelic variants on gefitinib metabolism in vitro
2017-11-02

Clinical Pharmacogenetics of Cytochrome P450-Associated Drugs in Children.

Sara L. Van Driest
2016-01-13

Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, CYP2D6, from whole-genome sequences.

Stephen F Kingsmore
2016-07-07

Prediction of CYP2D6 phenotype from genotype across world populations

Andrea Gaedigk, Teri Klein, J Steven Leeder, Michelle Whirl-Carrillo
2016-10-17

Phased diploid genome assembly with single-molecule real-time sequencing

Chen-Shan Chin, Fritz Sedlazeck, Christopher Dunn, Grant Cramer, Joseph R. Ecker, Dario Cantu
2016-08-17

Analysis of protein-coding genetic variation in 60,706 humans

Michael Boehnke, Sekar Kathiresan, Jaakko Tuomilehto, Markku Laakso, Karol Estrada, Aarno Palotie, Taru Tukiainen, Danish Saleheen, Gad Getz, Roberto Elosua, Adam Kiezun, Joanne Berghout, Pradeep Natarajan, James Ware, Hong-Hee Won, Douglas M. Ruderfer, Hugh Christian Watkins, Kaitlin E Samocha, Dongmei Yu, Eric Minikel, Christina M. Hultman, Mark Daly, Stacey Gabriel, Steven A McCarroll, Dermot McGovern, Patrick F. Sullivan, James G. Wilson, Pamela Sklar, John Danesh, Lorena Orozco, Benjamin M. Neale, Valentin Ruano Rubio, Eric Banks, Laura D. Gauthier, Namrata Gupta, Grace Tiao, Jeremiah M Scharf, Diego Ardissino, David Altshuler, Gina M Peloso, Konrad J. Karczewski, Timothy R Fennell, Anne H O'Donnell-Luria, David N. Cooper, Daniel P Howrigan, Mark McCarthy, Shaun M Purcell, Daniel G. MacArthur, Mark DePristo, Monkol Lek, Jason Flannick, Jack A Kosmicki, Menachem Fromer, Mitja Kurki, Ami Levy Moonshine, Khalid Shakir, Christine Stevens, Ruth McPherson, Ryan Poplin
2016-02-25

Human genetic variation database, a reference database of genetic variations in the Japanese population

Daisuke Yamaguchi, Ryo Yamada, Yoshinori Tsurusaki, Hirotomo Saitsu, Akihiro Umezawa
2016-08-17

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples

Hugh Christian Watkins, Roddy Walsh, Kate Thomson, James Ware, Birgit H Funke, Francesco Mazzarotto, Jenny Taylor, Martin Farrall
2015-08-31

CYP2D6 Haplotype Determination Using Long Range Allele-Specific Amplification: Resolution of a Complex Genotype and a Discordant Genotype Involving the CYP2D6*59 Allele
2015-11-25

Long-Read Single Molecule Real-Time Full Gene Sequencing of Cytochrome P450-2D6.

Robert Sebra, Robert J. Desnick
2015-01-21

Long read nanopore sequencing for detection of HLA and CYP2D6 variants and haplotypes

Gary D. Bader
2015-04-19

Characterization of the Ala62Pro polymorphic variant of human cytochrome P450 1A1 using recombinant protein expression.
2014-03-18

Functional characterization of wild-type and 49 CYP2D6 allelic variants for N-desmethyltamoxifen 4-hydroxylation activity

Noriyasu Hirasawa
2014-04-01

Trimmomatic: a flexible trimmer for Illumina sequence data

Björn Usadel, Anthony M. Bolger
2013-11-26

Quantifying rare, deleterious variation in 12 human cytochrome P450 drug-metabolism genes in a large-scale exome dataset

Bruce M. Psaty, John P. A. Ioannidis, Themistocles L Assimes, Jerome I Rotter, Ulrike Peters, Deborah A Nickerson, David M Herrington
2013-10-01

Complexities of CYP2D6 gene analysis and interpretation
2013-07-30

Functional influence of human CYP2D6 allelic variations: P34S, E418K, S486T, and R296C

Chul-Ho Yun
2011-02-11

Chiral analyses of dextromethorphan/levomethorphan and their metabolites in rat and human samples using LC-MS/MS
2010-08-11

Limited effects of frequent CYP2D6*36-*10 tandem duplication allele on in vivo dextromethorphan metabolism in a Japanese population

Hiroshi Yamazaki
2010-01-15

Fast and accurate long-read alignment with Burrows-Wheeler transform

Heng Li, Richard M. Durbin

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