Assessment of algorithms for high throughput detection of genomic copy number variation in oligonucleotide microarray data

被引：0
|
作者：
Ágnes Baross
Allen D Delaney
H Irene Li
Tarun Nayar
Stephane Flibotte
Hong Qian
Susanna Y Chan
Jennifer Asano
Adrian Ally
Manqiu Cao
Patricia Birch
Mabel Brown-John
Nicole Fernandes
Anne Go
Giulia Kennedy
Sylvie Langlois
Patrice Eydoux
JM Friedman
Marco A Marra
机构：
[1] British Columbia Cancer Agency,Genome Sciences Centre, BC Cancer Agency
[2] Affymetrix Inc.,Dept. of Medical Genetics
[3] University of British Columbia,Dept. of Pathology and Laboratory Medicine
[4] Children's & Women's Hospital,undefined
[5] BC Children's Hospital,undefined
[6] Genome British Columbia,undefined
来源：
BMC Bioinformatics | / 8卷
关键词：
Copy Number Variant; Single Nucleotide Polymorphism Genotype; Copy Number Analysis; Copy Number Variant Detection; False Positive Detection Rate;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
相关论文
共 14 条
  • [1] Copy Number Variation Mapping and Genomic Variation of Autochthonous and Commercial Turkey Populations
    Strillacci, Maria G.
    Gorla, Erica
    Rios-Utrera, Angel
    Vega-Murillo, Vicente E.
    Montano-Bermudez, Moises
    Garcia-Ruiz, Adriana
    Cerolini, Silvia
    Roman-Ponce, Sergio, I
    Bagnato, Alessandro
    FRONTIERS IN GENETICS, 2019, 10
  • [2] Toward accurate high-throughput SNP genotyping in the presence of inherited copy number variation
    Laura E MacConaill
    Micheala A Aldred
    Xincheng Lu
    Thomas LaFramboise
    BMC Genomics, 8
  • [3] Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
    Ahn, Joo Wook
    Coldwell, Michael
    Bint, Susan
    Ogilvie, Caroline Mackie
    JOVE-JOURNAL OF VISUALIZED EXPERIMENTS, 2015, (96):
  • [4] Detection of copy number variants with chromosomal microarray in 10 377 pregnancies at a single laboratory
    Lin, Yi-Hui
    Jong, Yiin-Jeng
    Huang, Pin-Chia
    Tsai, Chris
    ACTA OBSTETRICIA ET GYNECOLOGICA SCANDINAVICA, 2020, 99 (06) : 775 - 782
  • [5] Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray
    Baldwin, Erin L.
    Lee, Ji-Yun
    Blake, Douglas M.
    Bunke, Brian P.
    Alexander, Chad R.
    Kogan, Amy L.
    Ledbetter, David H.
    Martin, Christa L.
    GENETICS IN MEDICINE, 2008, 10 (06) : 415 - 429
  • [6] Copy number variation in Fayoumi and Leghorn chickens analyzed using array comparative genomic hybridization
    Abernathy, J.
    Li, X.
    Jia, X.
    Chou, W.
    Lamont, S. J.
    Crooijmans, R.
    Zhou, H.
    ANIMAL GENETICS, 2014, 45 (03) : 400 - 411
  • [7] Detection and assessment of copy number variation using PacBio long-read and Illumina sequencing in New Zealand dairy cattle
    Couldrey, C.
    Keehan, M.
    Johnson, T.
    Tiplady, K.
    Winkelman, A.
    Littlejohn, M. D.
    Scott, A.
    Kemper, K. E.
    Hayes, B.
    Davis, S. R.
    Spelman, R. J.
    JOURNAL OF DAIRY SCIENCE, 2017, 100 (07) : 5472 - 5478
  • [8] GROM-RD: resolving genomic biases to improve read depth detection of copy number variants
    Smith, Sean D.
    Kawash, Joseph K.
    Grigoriev, Andrey
    PEERJ, 2015, 3
  • [9] Effectiveness of machine learning at modeling the relationship between Hi-C data and copy number variation
    Wang, Yuyang
    Sun, Yu
    Liu, Zeyu
    Chen, Bijia
    Chen, Hebing
    Ren, Chao
    Lin, Xuanwei
    Hu, Pengzhen
    Jia, Peiheng
    Xu, Xiang
    Xu, Kang
    Liu, Ximeng
    Li, Hao
    Bo, Xiaochen
    QUANTITATIVE BIOLOGY, 2024, 12 (03) : 231 - 244
  • [10] CopyDetective: Detection threshold-aware copy number variant calling in whole-exome sequencing data
    Sandmann, Sarah
    Woeste, Marius
    de Graaf, Aniek O.
    Burkhardt, Birgit
    Jansen, Joop H.
    Dugas, Martin
    GIGASCIENCE, 2020, 9 (11): : 1 - 10
12