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1.

Willink, Beatriz; Tunström, Kalle; Nilén, Sofie; Chikhi, Rayan; Lemane, Téo; Takahashi, Michihiko; Takahashi, Yuma; Svensson, Erik I.; Wheat, Christopher West

The genomics and evolution of inter-sexual mimicry and female-limited polymorphisms in damselflies Journal Article

In: Nature Ecology & Evolution, vol. 8, no. 1, pp. 83–97, 2023, ISSN: 2397-334X.

Abstract | Links | BibTeX | Tags: WP2: Evolutionary/Comparative CPG, WP3: Translational CPG

2.

Sládeček, Tomáš; Gažiová, Michaela; Kucharík, Marcel; Zaťková, Andrea; Pös, Zuzana; Pös, Ondrej; Krampl, Werner; Tomková, Erika; Hýblová, Michaela; Minárik, Gabriel; Radvánszky, Ján; Budiš, Jaroslav; Szemes, Tomáš

Combination of expert guidelines-based and machine learning-based approaches leads to superior accuracy of automated prediction of clinical effect of copy number variations Journal Article

In: Sci. Rep., vol. 13, no. 1, pp. 10531, 2023, ISBN: 2045-2322.

Abstract | Links | BibTeX | Tags: WP3: Translational CPG

3.

Liao, Wen-Wei; Asri, Mobin; Ebler, Jana; Doerr, Daniel; Haukness, Marina; Hickey, Glenn; Lu, Shuangjia; Lucas, Julian K; Monlong, Jean; Abel, Haley J; Buonaiuto, Silvia; Chang, Xian H; Cheng, Haoyu; Chu, Justin; Colonna, Vincenza; Eizenga, Jordan M; Feng, Xiaowen; Fischer, Christian; Fulton, Robert S; Garg, Shilpa; Groza, Cristian; Guarracino, Andrea; Harvey, William T; Heumos, Simon; Howe, Kerstin; Jain, Miten; Lu, Tsung-Yu; Markello, Charles; Martin, Fergal J; Mitchell, Matthew W; Munson, Katherine M; Mwaniki, Moses Njagi; Novak, Adam M; Olsen, Hugh E; Pesout, Trevor; Porubsky, David; Prins, Pjotr; Sibbesen, Jonas A; Sirén, Jouni; Tomlinson, Chad; Villani, Flavia; Vollger, Mitchell R; Antonacci-Fulton, Lucinda L; Baid, Gunjan; Baker, Carl A; Belyaeva, Anastasiya; Billis, Konstantinos; Carroll, Andrew; Chang, Pi-Chuan; Cody, Sarah; Cook, Daniel E; Cook-Deegan, Robert M; Cornejo, Omar E; Diekhans, Mark; Ebert, Peter; Fairley, Susan; Fedrigo, Olivier; Felsenfeld, Adam L; Formenti, Giulio; Frankish, Adam; Gao, Yan; Garrison, Nanibaa' A; Giron, Carlos Garcia; Green, Richard E; Haggerty, Leanne; Hoekzema, Kendra; Hourlier, Thibaut; Ji, Hanlee P; Kenny, Eimear E; Koenig, Barbara A; Kolesnikov, Alexey; Korbel, Jan O; Kordosky, Jennifer; Koren, Sergey; Lee, Hojoon; Lewis, Alexandra P; Magalhães, Hugo; Marco-Sola, Santiago; Marijon, Pierre; McCartney, Ann; McDaniel, Jennifer; Mountcastle, Jacquelyn; Nattestad, Maria; Nurk, Sergey; Olson, Nathan D; Popejoy, Alice B; Puiu, Daniela; Rautiainen, Mikko; Regier, Allison A; Rhie, Arang; Sacco, Samuel; Sanders, Ashley D; Schneider, Valerie A; Schultz, Baergen I; Shafin, Kishwar; Smith, Michael W; Sofia, Heidi J; Tayoun, Ahmad N Abou; Thibaud-Nissen, Françoise; Tricomi, Francesca Floriana; Wagner, Justin; Walenz, Brian; Wood, Jonathan M D; Zimin, Aleksey V; Bourque, Guillaume; Chaisson, Mark J P; Flicek, Paul; Phillippy, Adam M; Zook, Justin M; Eichler, Evan E; Haussler, David; Wang, Ting; Jarvis, Erich D; Miga, Karen H; Garrison, Erik; Marschall, Tobias; Hall, Ira M; Li, Heng; Paten, Benedict

A draft human pangenome reference Journal Article

In: Nature, vol. 617, no. 7960, pp. 312–324, 2023, ISBN: 1476-4687.

Abstract | Links | BibTeX | Tags: WP3: Translational CPG

4.

Porubsky, David; Vollger, Mitchell R; Harvey, William T; Rozanski, Allison N; Ebert, Peter; Hickey, Glenn; Hasenfeld, Patrick; Sanders, Ashley D; Stober, Catherine; Consortium, Human Pangenome Reference; Korbel, Jan O; Paten, Benedict; Marschall, Tobias; Eichler, Evan E

Gaps and complex structurally variant loci in phased genome assemblies Journal Article

In: Genome Res., vol. 33, no. 4, pp. 496–510, 2023, ISSN: 1549-5469.

Abstract | Links | BibTeX | Tags: WP3: Translational CPG

5.

Luo, Xiao; Kang, Xiongbin; Schönhuth, Alexander

Predicting the prevalence of complex genetic diseases from individual genotype profiles using capsule networks Journal Article

In: Nat. Mach. Intell., vol. 5, no. 2, pp. 114–125, 2023, ISBN: 2522-5839.

Abstract | Links | BibTeX | Tags: WP3: Translational CPG

6.

Teramo, Antonella; Binatti, Andrea; Ciabatti, Elena; Schiavoni, Gianluca; Tarrini, Giulia; Baril`a, Gregorio; Calabretto, Giulia; Vicenzetto, Cristina; Gasparini, Vanessa Rebecca; Facco, Monica; Petrini, Iacopo; Grossi, Roberto; Pisanti, Nadia; Bortoluzzi, Stefania; Falini, Brunangelo; Tiacci, Enrico; Galimberti, Sara; Semenzato, Gianpietro; Zambello, Renato

Defining TCRγδlymphoproliferative disorders by combined immunophenotypic and molecular evaluation Journal Article

In: Nature Communications, vol. 13, no. 1, pp. 3298, 2022, ISBN: 2041-1723.

Abstract | Links | BibTeX | Tags: WP3: Translational CPG

7.

Sládeček, T.; Gažiová, M.; Pös, O.; Pös, Z.; Budiš, J.; Radvánsky, J.; Szemes, T.

Combination of expert decision systems with artificial intelligence leads to superior accuracy of automated prediction of clinical effect of copy number variation Presentation

Poster Presentation at ESHG, 01.06.2022.

BibTeX | Tags: Misc, WP3: Translational CPG

8.

Luo, Xiao; Kang, Xiongbin; Schönhuth, Alexander

Strainline: full-length de novo viral haplotype reconstruction from noisy long reads Journal Article

In: Genome Biology, vol. 23, iss. 1, no. 29, pp. 1–27, 2022, ISSN: 1474-760X.

Abstract | Links | BibTeX | Tags: WP1: Primary CPG, WP3: Translational CPG

9.

Gažiová, M.; Sládeček, T.; Pös, O.; Števko, M.; Krampl, W.; Pös, Z.; Hekel, R.; Hlavačka, M.; Kucharík, M.; Radvánszky, J.; Budiš, J.; Szemes, T.

Automated prediction of the clinical impact of structural copy number variations Journal Article

In: Scientific Reports, vol. 12, no. 1, pp. 555, 2022, ISSN: 2045-2322.

Abstract | Links | BibTeX | Tags: Misc, WP3: Translational CPG

10.

Luo, Xiao; Kang, Xiongbin; Schönhuth, Alexander

phasebook: haplotype-aware de novo assembly of diploid genomes from long reads Journal Article

In: Genome biology, vol. 22, no. 299, pp. 1–26, 2021, ISSN: 1474-760X.

Abstract | Links | BibTeX | Tags: WP3: Translational CPG