The genomic landscape of UM-SCC oral cavity squamous cell carcinoma cell lines

by Birkeland, A.C, Brenner, J.C, Carey, T.E, Devenport, S.N, Foltin, S.K, Hoesli, R.C, Jewell, B.M, Jiang, H., Kulkarni, A., Ludwig, M.L, Mann, J.E, Michmerhuizen, N.L, Shuman, A.G, Spector, M.E
Published 2018

Prenatal genetic testing in 19 fetuses with corpus callosum abnormality

by Peng, C., She, Q., Tan, W., Tang, E., Wang, D., Wang, L.
Published 2021

Association of DYNC1H1 gene SNP/CNV with disease susceptibility, GCs efficacy, HRQOL, anxiety, and depression in Chinese SLE patients

by Cai, J., Chen, Y., Huang, H., Huang, S., Li, M., Li, Z., Liu, S., Lou, Q., Teng, Y., Wang, L., Wang, Y., Xu, Z., Yan, Z., Zhang, T., Zou, Y.
Published 2021

Fetal growth restriction: associated genetic etiology and pregnancy outcomes in a tertiary referral center

by Cai, M., Fu, X., Huang, H., Lin, N., Su, L., Wu, X., Xie, X., Xu, L., Xu, S.
Published 2022

ggComp enables dissection of germplasm resources and construction of a multiscale germplasm network in wheat

by Chai, L., Feng, X., Guo, W., Hu, Z., Li, J., Liang, R., Liu, J., Ni, Z., Peng, H., Su, Z., Sun, Q., Wang, W., Wang, X., Wang, Z., Xie, X., Xin, M., Yang, Z., Yao, Y., You, M.
Published 2022

Variants in ADD1 cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humans

by Bhoj, E.J, Brasch-Andersen, C., Brites, P., Bupp, C., Caluseriu, O., Costa, A.R, Fagerberg, C., Falk, M.J, Feng, I., Ganetzky, R.D, Hakonarson, H., Hansen, L.K, Hill, R.S, Hu, K., Kahle, K.T, Kang, B., Li, D., Muraresku, C.C, Neil, J.E, Pinto-Costa, R., Qi, C., Ruan, X., Sousa, M.M, Walsh, C.A, Zhang, X., Zhong, R.
Published 2022

MCKAT: a multi-dimensional copy number variant kernel association test

by Catchpoole, D., Kennedy, P.J, Khan, J., Maus Esfahani, N.
Published 2021

GSA: an independent development algorithm for calling copy number and detecting homologous recombination deficiency (HRD) from target capture sequencing

by Cai, Y., Chen, D., Li, Q., Meng, P., Shao, M., Shi, T., Song, C., Wang, C., Wang, X.
Published 2021

isoCNV: in silico optimization of copy number variant detection from targeted or exome sequencing data

by Aiese Cigliano, R., Barcelona-Cabeza, R., Sanseverino, W.
Published 2021

Pre-capture multiplexing provides additional power to detect copy number variation in exome sequencing

by Berg, J.S, Bizon, C., Bost, D.M, Brandt, A.T, Filer, D.L, Jeffries, C.D, Kuo, F., Li, Y., Mieczkowski, P.A, Powell, B.C, Robasky, K., Tilley, C.R, Tilson, J.L, Wilhelmsen, K.C
Published 2021

PhyliCS: a Python library to explore scCNA data and quantify spatial tumor heterogeneity

by Bertotti, A., Ficarra, E., Grassi, E., Montemurro, M., Pizzino, C.G, Urgese, G.
Published 2021

Identifying collateral and synthetic lethal vulnerabilities within the DNA-damage response

by Ceri, S., Pinoli, P., Srihari, S., Wong, L.
Published 2021

SVExpress: identifying gene features altered recurrently in expression with nearby structural variant breakpoints

by Chen, F., Creighton, C.J, Zhang, Y.
Published 2021

Improving high-resolution copy number variation analysis from next generation sequencing using unique molecular identifiers

by Berard, C., Bohers, E., Celebi, A., Dauchel, H., Dubois, S., Jardin, F., Lanic, M.-D, Lecroq, T., Marchand, V., Mareschal, S., Penther, D., Ruminy, P., Sater, V., Tilly, H., Vergne, N., Viailly, P.-J, Viennot, M.
Published 2021

Auto-HMM-LMF: feature selection based method for prediction of drug response via autoencoder and hidden Markov model

by Emdadi, A., Eslahchi, C.
Published 2021

Accucopy: accurate and fast inference of allele-specific copy number alterations from low-coverage low-purity tumor sequencing data

by Fan, X., Huang, Y.S, Luo, G.
Published 2021

CHRNA7 copy number gains are enriched in adolescents with major depressive and anxiety disorders

by Calarge, C.A, Gillentine, M.A, Grochowski, C.M, Lozoya, R., Schaaf, C.P, White, J.J, Yin, J.
Published 2018

Rare germline copy number variants (CNVs) and breast cancer risk

by ABCTB Investigators, Ahearn, T.U, Andrulis, I.L, Anton-Culver, H., Antonenkova, N.N, Arndt, V., Aronson, K.J, Beckmann, M.W, Behrens, S., Benitez, J., Bermisheva, M., Bogdanova, N.V, Bojesen, S.E, Bolla, M.K, Brenner, H., Castelao, J.E, Chang-Claude, J., Chenevix-Trench, G., Clarke, C.L, Collée, J.M, Couch, F.J, Cox, A., Cross, S.S, CTS Consortium, Czene, K., Dennis, J., Devilee, P., Dörk, T., Dorling, L., Dossus, L., Dunning, A.M, Easton, D.F, Eliassen, A.H, Eriksson, M., Evans, D.G, Fasching, P.A, Figueroa, J., Fletcher, O., Flyger, H., Freeman, L.E.B, Fritschi, L., Gabrielson, M., Gago-Dominguez, M., García-Closas, M., Giles, G.G, González-Neira, A., Guénel, P., Hahnen, E., Haiman, C.A, Hall, P., Hollestelle, A., Hoppe, R., Hopper, J.L, Howell, A., Jager, A., Jakubowska, A., John, E.M, Johnson, N., Jones, M.E, Jung, A., Kaaks, R., kConFab/AOCS Investigators, Keeman, R., Khusnutdinova, E., Kitahara, C.M, Ko, Y.-D, Kosma, V.-M, Koutros, S., Kraft, P., Kristensen, V.N, Kubelka-Sabit, K., Kurian, A.W, Lacey, J.V, Lambrechts, D., Larson, N.L, Linet, M., Mannermaa, A., Manoukian, S., Margolin, S., Mavroudis, D., Michailidou, K., Milne, R.L, Muranen, T.A, Murphy, R.A, NBCS Collaborators, Nevanlinna, H., Ogrodniczak, A., Olson, J.E, Olsson, H., Park-Simon, T.-W, Perou, C.M, Peterlongo, P., Pharoah, P.D.P, Plaseska-Karanfilska, D., Pylkäs, K., Rennert, G., Saloustros, E., Sandler, D.P, Sawyer, E.J, Schmidt, M.K, Schmutzler, R.K, Shibli, R., Simard, J., Smeets, A., Soucy, P., Southey, M.C, Swerdlow, A.J, Tamimi, R.M, Taylor, J.A, Teras, L.R, Terry, M.B, Tomlinson, I., Troester, M.A, Truong, T., Tyrer, J.P, Vachon, C.M, Walker, L.C, Wang, Q., Wendt, C., Winqvist, R., Wolk, A., Yang, X.R, Zheng, W., Ziogas, A.
Published 2022

Rare copy number variants identified suggest the regulating pathways in hypertension-related left ventricular hypertrophy

by Basir, F., Boon-Peng, H., Danuri, N., Jusoh, J.A.M, Majid, F., Marshall, C.R, Scherer, S.W, Thiruvahindrapuram, B., Yusoff, K.
Published 2016

A novel rare copy number variant of the ABCF1 gene identified among dengue fever patients from Peninsular Malaysia

by AbuBakar, S., Hoh, B.P, Mahiran, M., Nik Khairudin, N.Y, Rafidah Hanim, S., Sam, S.S, Umi, S.H
Published 2014