PublisherDOIYearVolumeIssuePageTitleAuthor(s)Link
Genomics & Informatics10.5808/gi.210662022201e4Comparison of the copy-neutral loss of heterozygosity identified from whole-exome sequencing data using three different toolsGang-Taik Lee, Yeun-Jun Chunghttp://genominfo.org/upload/pdf/gi-21066.pdf, http://genominfo.org/journal/view.php?doi=10.5808/gi.21066, http://genominfo.org/upload/pdf/gi-21066.pdf
BMC Bioinformatics10.1186/s12859-017-1705-x2017181An evaluation of copy number variation detection tools for cancer using whole exome sequencing dataFatima Zare, Michelle Dow, Nicholas Monteleone, Abdelrahman Hosny, Sheida Nabavihttp://link.springer.com/content/pdf/10.1186/s12859-017-1705-x.pdf, http://link.springer.com/article/10.1186/s12859-017-1705-x/fulltext.html, http://link.springer.com/content/pdf/10.1186/s12859-017-1705-x.pdf
Human Mutation10.1002/humu.225372014357899-907An Evaluation of Copy Number Variation Detection Tools from Whole-Exome Sequencing DataRenjie Tan, Yadong Wang, Sarah E. Kleinstein, Yongzhuang Liu, Xiaolin Zhu, Hongzhe Guo, Qinghua Jiang, Andrew S. Allen, Mingfu Zhuhttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fhumu.22537, http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22537/fullpdf
Nucleic Acids Research10.1093/nar/gkw6952016gkw695Enhanced copy number variants detection from whole-exome sequencing data using EXCAVATOR2Romina D'Aurizio, Tommaso Pippucci, Lorenzo Tattini, Betti Giusti, Marco Pellegrini, Alberto Magihttp://academic.oup.com/nar/article-pdf/44/20/e154/9598456/gkw695.pdf
10.21203/rs.2.19325/v32020Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani familiesYingjie Zhou, Muhammad Tariq, Sijie He, Uzma Abdullah, Jianguo Zhang, Shahid Mahmood Baighttps://www.researchsquare.com/article/rs-9938/v3, https://www.researchsquare.com/article/rs-9938/v3.html
10.21203/rs.2.19325/v12019Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistan familiesYingjie Zhou, Muhammad Tariq, Sijie He, Uzma Abdullah, Jianguo Zhang, Shahid Mahmood Baighttps://www.researchsquare.com/article/rs-9938/v1, https://www.researchsquare.com/article/rs-9938/v1.html
Cancers10.3390/cancers11111725201911111725Comprehensive Outline of Whole Exome Sequencing Data Analysis Tools Available in Clinical Oncology Bartha, Győrffyhttps://www.mdpi.com/2072-6694/11/11/1725/pdf
Current Protocols in Human Genetics10.1002/0471142905.hg0723s812014811Using XHMM Software to Detect Copy Number Variation in Whole‐Exome Sequencing DataMenachem Fromer, Shaun M. Purcellhttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2F0471142905.hg0723s81, https://onlinelibrary.wiley.com/doi/pdf/10.1002/0471142905.hg0723s81, https://onlinelibrary.wiley.com/doi/full-xml/10.1002/0471142905.hg0723s81, https://onlinelibrary.wiley.com/doi/pdf/10.1002/0471142905.hg0723s81
10.21203/rs.2.22761/v12020New heritable ATRX mutation identified by whole exome sequencing and reviewZahra Shahbazi, Golale Rostami, Mohammad Hamidhttps://www.researchsquare.com/article/rs-13335/v1, https://www.researchsquare.com/article/rs-13335/v1.html
10.21203/rs.2.19325/v22020Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistan familiesYingjie Zhou, Muhammad Tariq, Sijie He(Former Corresponding Author), Uzma Abdullah, Jianguo Zhang(New Corresponding Author), Shahid Mahmood Baighttps://www.researchsquare.com/article/rs-9938/v2, https://www.researchsquare.com/article/rs-9938/v2.html