Ein Blick zurück...
Journal Club
Sarah Schuhmann stellt vor: "Actionable Genotypes and Their Association with Life Span in Iceland"
Jensson BO, Arnadottir GA, Katrinardottir H, Fridriksdottir R, Helgason H, Oddsson A,...Holm H, Rafnar T, Thorsteinsdottir U, Gudbjartsson DF, Stefansson K, Sulem P. (2023). N Engl J Med. 389:1741-1752.
14.00 - 15.00 Uhr | 17. Januar 2025
Humangenetisches Kolloquium
Prof. Dr. Piranit Nik Kantaputra stellt vor: "Teeth, Gum, and Jaws in Medical Genetics: Rare genetic disorders in Oral cavity"
Dienstag, den 01.10.2024 16 Uhr c.t. (Präsenzveranstaltung) Humangenetisches Institut, Seminarraum U1.012 Kussmaulallee 4, 91054 Erlangen
16.15 - 17.30 Uhr | 01. Oktober 2024
Humangenetisches Kolloquium
Prof. Dr. Anita Rauch stellt vor "Clinical Utility of Expanded Carrier Screening"
Humangenetisches Institut, Seminarraum Schwabachanlage 10, 91054 Erlangen
2 Fortbildungspunkte
15. - 17. Mai 2023
Journal Club
Prof. Dr. Reis stellt vor: "The complete sequence of a human genome"
Seminarraum 1.OG, Schwabachanlage 10
14.00 - 15.00 Uhr | 25. November 2022
Online Journal Club
Alexander Schulz stellt vor: "BRD4 orchestrates genome folding to promote neural crest differentiation"
Ricardo Linares-Saldana, Wonho Kim, Nikhita A. Bolar, ..., Gerd A. Blobel, Eric F. Joyce & Rajan Jain. (2021). Nature Genetics 53:1480–1492.
14.00 - 15.00 Uhr | 22. Juli 2022
Online Journal Club
Prof. Dr. Christian Thiel stellt vor: "Assessing the contribution of rare variants to complex trait heritability from whole-genome sequence data"
Teilnahme nach Anmeldung über Sekretariat.HU@uk-erlangen.de.
15. - 11. Juli 2022
Online Journal Club
Elisabeth Bosch stellt vor: "BAF complex-mediated chromatin relaxation is required for establishment of X chromosome inactivation"
Andrew Keniry, Natasha Jansz, Linden J. Gearing, ..., Jose M. Polo & Marnie E. Blewitt. (2022). Nature Communications 13:1658.
14.00 - 15.00 Uhr | 03. Juni 2022
Online Journal Club
Dr. Steffen Uebe stellt vor:"DeepSTARR predicts enhancer activity from DNA sequence and enables the de novo design of synthetic enhancers"
Bernardo P. de Almeida, Franziska Reiter, Michaela Pagani & Alexander Stark. (2022). Nat. Genetics 54:613–624.
14.00 - 15.00 Uhr | 20. Mai 2022
Online Journal Club
Ali Asgher Ali stellt vor: "Interneuron origin and molecular diversity in the human fetal brain"
Yuan Yu, Zhiwei Zeng, Danlin Xie, Renliang Chen, Yongqiang Sha, Shiying Huang, Wenjie Cai, Wanhua Chen, Wenjun Li, Rongqin Ke & Tao Sun. (2021). Nature Neuroscience 24:1745–1756.
13.07 Uhr | 04. Mai 2022
Online Journal Club
Prof. Dr. med. André Reis stellt vor: "Genetic variants underlying differences in facial morphology in East Asian and European populations"
Zhang M, Wu S, Du S, Qian W, Chen J, Qiao L, Yang Y, Tan J, Yuan Z, Peng Q, Liu Y, Navarro N, Tang K, Ruiz-Linares A, Wang J, Claes P, Jin L, Li J, Wang S. (2022). Nature Genetics 54:403–411.
14.00 - 15.00 Uhr | 29. April 2022
Journal Club
Dr. Sarah Schuhmann stellt vor: "100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report"
The 100,000 Genomes Project Pilot Investigators, ..., Tom Fowler, Augusto Rendon, Mark Caulfield. (2021). N Engl J Med. 385:1868-1880.
14.00 - 15.00 Uhr | 28. Januar 2022
Journal Club
Elisabeth Bosch stellt vor: "CRISPR-Cas9 effectors facilitate generation of single-sex litters and sex-specific phenotypes"
Charlotte Douglas, Valdone Maciulyte, Jasmin Zohren, Daniel M. Snell, Shantha K. Mahade-vaiah, Obah A. Ojarikre, Peter J. I. Ellis & James M. A. Turner. (2021). Nature Communications 12: 6926.
12.48 Uhr | 21. Januar 2022
Journal Club: Prof. Dr. Ulrike Hüffmeier stellt vor: "Human TBK1 deficiency leads to autoinflammation driven by TNF-induced cell death"
Justin Taft, Michael Markson, Diana Legarda,..., Ivona Aksentijevich, Iris H.I. M. Hollink, Dusan Bogunovic. (2021). Cell 184:4447-4463.
14.00 - 15.00 Uhr | 14. Januar 2022
Journal Club
Prof. Dr. Andreas Winterpacht stellt vor: "Human–chimpanzee fused cells reveal cis-regulatory divergence underlying skeletal evolution"
David Gokhman, Rachel M. Agoglia, Maia Kinnebrew, Wei Gordon, Danqiong Sun, Vivek K. Bajpai, Sahin Naqvi, Coral Chen, Anthony Chan, Chider Chen, Dmitri A. Petrov, Nadav Ahituv, Honghao Zhang, Yuji Mishina, Joanna Wysocka, Rajat Rohatgi and Hunter B. Fraser. (2021). Nat Genet. 53:467-476.
14.00 - 15.00 Uhr | 17. Dezember 2021
Journal Club
Prof. Dr. Christian Thiel stellt vor: "Enhanced prime editing systems by manipulating cellular determinants of editing outcomes"
Peter J Chen, Jeffrey A Hussmann, Jun Yan, Friederike Knipping, Purnima Ravisankar, Pin-Fang Chen, Cidi Chen, James W Nelson, Gregory A Newby, Mustafa Sahin, Mark J Osborn, Jonathan S Weissman, Britt Adamson, David R Liu. (2031). Cell. 184(22):5635-5652.
14.00 - 15.00 Uhr | 10. Dezember 2021
Journal Club
Dr. Melissa Rieger stellt vor: "Hematopoietic Stem- and Progenitor-Cell Gene Therapy for Hurler Syndrome"
B. Gentner, F. Tucci, S. Galimberti, ..., C. Baldoli, E. Montini, S. Gregor. (2021). N Engl J Med. 385(21):1929-1940.
1 Fortbildungspunkte
14.00 - 15.00 Uhr | 03. Dezember 2021
Journal Club
Katalin Blum stellt vor: "Lumasiran, an RNAi Therapeutic for Primary Hyperoxaluria Type 1"
Sander F. Garrelfs, Yaacov Frishberg, Sally A. Hulton, ..., John M Gansner, Tracy L McGregor, John C Lieske, ILLUMINATE-A Collaborators. (2021). N Engl J Med. 384:1216-1226.
14.00 - 15.00 Uhr | 26. November 2021
Journal Club
Steffen Uebe stellt vor: "Thousands of Qatari genomes inform human migration history and improve imputatoin of Arab haplotypes"
Rozaimi Mohamad Razali, Juan Rodriguez-Flores, Mohammadmersad Ghorbani, Haroon Naeem, Waleed Aamer, Elbay Aliyev, Ali Jubran, Qatar Genome Program Research Consortium, Andrew G. Clark, Khalid A. Fakhro & Younes Mokrab. (2021). Nat Commun. 12:5929.
14.00 - 15.00 Uhr | 12. November 2021
Journal Club
Dr. Georgia Vasileiou stellt vor: "CRISPR-Cas9 In Vivo Gene Editing for Transthyretin Amyloidosis"
Julian D Gillmore, Ed Gane, Jorg Taubel, ..., John Leonard, Laura Sepp-Lorenzino, David Lebwohl. (2021). N Engl J Med. 385:493-502.
14.00 - 15.00 Uhr | 05. November 2021
Journal Club
Prof. Dr. André Rei sstellt vor: "Recent ultra-rare inherited variants implicate new autism candidate risk genes"
Amy B Wilfert, Tychele N Turner, Shwetha C Murali, PingHsun Hsieh, Arvis Sulovari, Tianyun Wang, Bradley P Coe, Hui Guo, Kendra Hoekzema, Trygve E Bakken, Lara H Winterkorn, Uday S Evani, Marta Byrska-Bishop, Rachel K Earl, Raphael A Bernier, SPARK Consortium; Michael C Zody, Evan E Eichler. (2021). Nat Genet. 8:1125-1134.
1 Fortbildungspunkte
14.00 - 15.00 Uhr | 21. Oktober 2021
Online Journal Club
Prof. Dr. Andreas Winterpacht stellt vor: "Functional and structural basis of extreme conservation in vertebrate 5′ untranslated regions"
Byeon GW, Cenik ES, Jiang L, Tang H, Das R, Barna M. (2021). Nat Genet. 53:729-741.
14.00 - 15.00 Uhr | 02. Juli 2021
Online Journal Club
Dr. med. Juliane Hoyer stellt vor: "Breast Cancer Risk Genes — Association Analysis in More than 113,000 Women"
Breast Cancer Association Consortium. (2021). N Engl J Med. 384:428-439.
14.00 - 15.00 Uhr | 25. Juni 2021
Online Journal Club
Melissa Rieger stellt vor: "Autologous Ex Vivo Lentiviral Gene Therapy for Adenosine Deaminase Deficiency"
Kohn DB, Booth C, Shaw K.L.,..., Malech HL, Thrasher AJ, and Gaspar HB. (2021). N Engl J Med. 2021 384:2002-2013.
1 Fortbildungspunkte
14.00 - 15.00 Uhr | 18. Juni 2021
Online Journal Club
Arif Ekici stellt vor: "Highly parallel and efficient single cell mRNA sequencing with paired picoliter chambers"
Zhang M, Zou Y, Xu X,..., Lin W, Zare RN & Yang C. (2020). Nature Communications 11: 2118.
14.00 - 15.00 Uhr | 11. Juni 2021
Online Journal Club
Steffen Uebe stellt vor: "Long-read sequencing of 3,622 Icelanders provides insight into the role of structural variants in human diseases and other traits"
Beyter D., Ingimundardottir H., Oddsson A., ..., Magnusson O.T., Halldorsson B.V. & Stefansson K. (2021). Nat Genet. doi: 10.1038/s41588-021-00865-4 [Online ahead of print].
14.00 - 15.00 Uhr | 28. Mai 2021
Online Journal Club
Katalin Hetzelt stellt vor: "CRISPR-Cas9 Gene Editing for Sickle Cell Disease and β-Thalassemia"
Frangoul H, Altshuler D, Cappellini MD, Chen YS, Domm J, Eustace BK, Foell J, de la Fuente J, Grupp S, Handgretinger R, Ho TW, Kattamis A, Kernytsky A, Lekstrom-Himes J, Li AM, Locatelli F, Mapara MY, de Montalembert M, Rondelli D, Sharma A, Sheth S, Soni S, Steinberg MH, Wall D, Yen A, Corbacioglu S. (2021). N Engl J Med. 384:252-260.
1 Fortbildungspunkte
10.56 Uhr | 19. Mai 2021
Online Journal Club
Elisabeth Bosch stellt vor: "METTL3 regulates heterochromatin in mouse embryonic stem cells"
Xu W., Li J., Chenxi Jing Wen H., Ma H., Rong B., Diao J., Wang L., Wang J., Wu F., Tan L., Geno Shi Y., Shi Y. & Shen H. (2021). Nature 591:317–321.
14.00 - 15.00 Uhr | 07. Mai 2021
Online Journal Club
Carina Vogl stellt vor: "Insights into the genetic architecture of the human face"
White JD, Indencleef K, Naqvi S, Eller RJ, Hoskens H, Roosenboom J, Lee MK, Li J, Mohammed J, Richmond S, Quillen EE, Norton HL, Feingold E, Swigut T, Marazita ML, Peeters H, Hens G, Shaffer JR, Wysocka J, Walsh S, Weinberg SM, Shriver MD, Claes P. (2021). Nature Genetics 53:45–53.
14.00 - 15.00 Uhr | 30. April 2021
Journal Club
Stefan Haskamp stellt vor: "Transcriptomics of peripheral immune cells in generalized pustular psoriasis"
In Preparation. Vorab wird Iris Kerker die Ergebnisse ihrer Masterarbeit vorstellen: "Genetic and molecular analyses in psoriatic subtypes".
14.00 Uhr | 23. April 2021
Journal Club
Prof. Dr. med. André Reis stellt vor: "The major genetic risk factor for severe COVID-19 is inherited from Neanderthals"
Zeberg H, Pääbo S. (2020). Nature 587:610-612.
1 Fortbildungspunkte
14.00 - 15.00 Uhr | 16. April 2021
Journal Club
Georgia Vasileiou stellt vor: "Apigenin as a Candidate Prenatal Treatment for Trisomy 21: Effects in Human Amniocytes and the Ts1Cje Mouse Model"
Guedj F, Siegel AE, Pennings J.L.A., Alsebaa F, Massingham LJ, Tantravahi U, and Bianchi DW. (2020). Am J Hum Genet. 107:911-931.
14.00 - 15.00 Uhr | 19. Februar 2021
Journal Club
Dr. Arif Ekici stellt vor: "In vivo base editing rescues Hutchinson-Gilford progeria syndrome in mice"
Koblan LW, Erdos MR, Wilson C, ...Collins FS, Brown JD, Liu DR. (2021). Nature doi: 10.1038/s41586-020-03086-7. Online ahead of print.
14.00 - 15.00 Uhr | 29. Januar 2021
Journal Club
Prof. Dr. Andreas Winterpacht stellt vor:"Imprinted maternally expressed microRNAs antagonize paternally driven gene programs in neurons"
Whipple AJ, Breton-Provencher V, Jacobs HN, Chitta UK, Sur M, Sharp PA. (2020). Molecular Cell 78:85-95.
14.00 - 15.00 Uhr | 22. Januar 2021
Journal Club
Prof. Dr. Christian Thiel stellt vor: "Genomic Sequencing for Newborn Screening: "Results of the NC NEXUS Project"
Roman TS, Crowley SB, Roche MI, ..., Weck KE, Powell CM, Berg JS. (2020). Am J Hum Genet 107:596-611.
14.00 - 15.00 Uhr | 15. Januar 2021
Journal Club
Anna Fliedner stellt vor: "Roles of transcriptional regulator PHF6 and transcriptional terminator SCAF4 in neurodevelopment"
Anna Fliedner präsentiert die Ergebnisse ihrer Doktorarbeit.
14.00 - 15.00 Uhr | 11. Dezember 2020
Journal Club
Melissa Rieger stellt vor: "The Genetic Landscape and Epidemiology of Phenylketonuria"
Hillert A, Anikster Y, Belanger-Quintana A,..., Hoffmann GF, Garbade SF, Blau N. 2020. Am J Hum Genet 107:234–250.
14.00 - 15.00 Uhr | 04. Dezember 2020
Journal Club
Esen Gümüslü stellt vor: "Exome sequencing in infants with congenital hearing impairment: a population-based cohort study"
Downie L., Halliday J., Burt R., ..., Rehm H.L., Melbourne Genomics Health Alliance & Amor D.J. (2020). European Journal of Human Genetics 28:587–596.
14.00 Uhr | 27. November 2020
Journal Club - Ulrike Hüffmeier stellt vor: "Inborn errors of type I IFN immunity and autoantibodies against type I IFN in patients with life-threatening COVID-19"
Zhang et al. 2020, Science 370(6515):eabd4570.
14.00 - 15.00 Uhr | 20. November 2020
Journal Club
Franziska Langhammer stellt vor: "Behavioral and neural correlates of hide-and-seek in rats"
Reinhold AS, Sanguinetti-Scheck JI, Hartmann K, Brecht M. (2019). Science 365:1180-1183.
14.00 - 15.00 Uhr | 31. Juli 2020
Journal Club
Anne Gregor stellt vor: "Suppression of proteolipid protein rescues Pelizaeus-Merzbacher disease"
Elitt MS, Barbar L, Shick HE, ..., Ronald A Conlon RA, Rigo F, Tesar PJ (2020). Nature doi: 10.1038/s41586-020-2494-3; online ahead of print.
14.00 - 15.00 Uhr | 24. Juli 2020
Journal Club
Juliane Hoyer stellt vor: "Genetic Basis of Ruminant Headgear and Rapid Antler Regeneration"
Wang Y, Zhang C, Wang N, Li Z, Heller R, Liu R, Zhao Y, Han J, Pan X, Zheng Z, Dai X, Chen C, Dou M, Peng S, Chen X, Liu J, Li M, Wang K, Liu C, Lin Z, Chen L, Hao F, Zhu W, Song C, Zhao C, Zheng C, Wang J, Hu S, Li C, Yang H, Jiang L, Li G, Liu M, Sonstegard TS, Zhang G, Jiang Y, Wang W, Qiu Q. (2019). Science 364:eaav6335.
14.00 - 15.00 Uhr | 10. Juli 2020
Journal Club
Anna Fliedner stellt vor: "Sleep Loss Can Cause Death through Accumulation of Reactive Oxygen Species in the Gut"
Alexandra Vaccaro, Yosef Kaplan Dor, Keishi Nambara, Elizabeth A Pollina, Cindy Lin, Michael E Greenberg, Dragana Rogulja (2020). Cell; published online ahead of print; S0092-8674(20)30555-9.
14.00 - 15.00 Uhr | 26. Juni 2020
Journal Club
Sarah Schuhmann stellt vor: "Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders"
Erfan Aref-Eshghi, Jennifer Kerkhof, Victor P Pedro, ..., Charles E Schwartz, David Genevieve, Bekim Sadikovic. (2020). Am J Hum Genet. 106:356-370.
1 Fortbildungspunkte
14.00 - 15.00 Uhr | 19. Juni 2020
Journal Club
Carina Mayer stellt vor: "Search-and-replace genome editing without double-strand breaks or donor DNA"
Anzalone AV, Randolph PB, Davis JR, Sousa AA, Koblan LW, Levy JM, Chen PJ, Wilson C, Newby GA, Raguram A, Liu DR. (2019). Nature 576:149-157.
14.00 - 15.00 Uhr | 29. Mai 2020
Journal Club
PD Dr. med. Christian Thiel stellt vor: "Genetic contributions to variation in human stature in prehistoric Europe"
Cox SL, Ruff CB, Maier RM, Mathieson I. (2019). Genetic contributions to variation in human stature in prehistoric Europe. PNAS 116:21484-21492.
14.00 - 15.00 Uhr | 08. Mai 2020
Journal Club
Christiane Zweier stellt vor: "Neuronal impact of patient-specific aberrant NRXN1α splicing"
Flaherty E, Zhu S, Barretto N, ..., Sebra R, Fang G, Brennand KJ. (2019). Nature Genetics 51:1679-1960.
14.00 - 15.00 Uhr | 31. Januar 2020
Journal Club
Marie Therese Wittmann stellt vor: "Transcription factor 4 orchestrates forebrain commissure development by modulating the activity of key transcription factors"
Progress Report zur Promotion
14.00 - 15.00 Uhr | 10. Januar 2020
Journal Club
Katalin Hetzelt stellt vor: "Elexacaftor–Tezacaftor–Ivacaftor for Cystic Fibrosis with a Single Phe508del Allele"
Middleton PG, Mall MA, Dřevínek P,..., Rowe SM, Jain R; VX17-445-102 Study Group. (2019). N Engl J Med. 381:1809-1819.
1 Fortbildungspunkte
14.00 - 15.00 Uhr | 13. Dezember 2019
Journal Club: Elisabeth Bosch stellt vor: "Unified single-cell analysis of testis gene regulation and pathology in five mouse strains"
Jung M, Wells D, Rusch J, Ahmad S, Marchini J, Myers SR, Conrad DF. (2019). Elife pii: e43966.
1 Fortbildungspunkte
14.00 - 16.00 Uhr | 06. Dezember 2019
Journal Club
Prof. Andreas Winterpacht stellt vor: "The ChAHP Complex Counteracts Chromatin Looping at CTCF Sites that Emerged from SINE Expansions in Mouse"
Kaaij L.J.T., Mohn F., van der Weide R.H., de Wit E., Bühler M. (2019). Cell 178: 1437-1451.
14.00 - 15.00 Uhr | 15. November 2019
Journal Club
Cornelia Kraus stellt vor: "Quantifying the contribution of recessive coding variation to developmental disorders"
Martin HC, Jones WD, McIntyre R, ..., Hurles ME, Barrett JC; Deciphering Developmental Disorders Study. (2018). Science 362:1161-1164.
14.00 - 15.00 Uhr | 26. Juli 2019
Journal Club
Francesca Pasutto stellt vor: "Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease"
Albert S, Garanto A, Sangermano R, Khan M, Bax NM, Hoyng CB, Zernant J, Lee W, Allikmets R, Collin RWJ, Cremers FPM. (2018). Am J Hum Genet. 102:517-527.
14.00 - 15.00 Uhr | 12. Juli 2019
Journal Club
Juliane Hoyer stellt vor: "Detecting the mutational signature of homologous recombination deficiency in clinical samples"; Tanja Meerbrei stellt ihre Masterarbeit vor: "The role of FBXO11 in neurodevelopmental disorders"
Gulhan DC, Lee JJ, Melloni GEM, Cortés-Ciriano I, Park PJ. (2019). Nat Genet. 51:912-919.
14.00 - 15.00 Uhr | 05. Juli 2019
Journal Club
Stefan Haskamp stellt vor: "RNA velocity of single cells"
La Manno G, Soldatov R, Zeisel A, Braun E, Hochgerner H, Petukhov V, Lidschreiber K, Kastriti ME, Lönnerberg P, Furlan A, Fan J, Borm LE, Liu Z, van Bruggen D, Guo J, He X, Barker R, Sundström E, Castelo-Branco G, Cramer P, Adameyko I, Linnarsson S, Kharchenko PV. (2018). Nature, 560: 494.
1 Fortbildungspunkte
14.00 - 15.00 Uhr | 24. Mai 2019
Journal Club
Carina Vogl stellt vor: "Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions"
Aref-Eshghi E, Bend EG, Colaiacovo S, Caudle M, Chakrabarti R, Napier M, Brick L, Brady L, Carere DA, Levy MA, Kerkhof J, Stuart A, Saleh M, Beaudet AL, Li C, Kozenko M, Karp N, Prasad C, Siu VM, Tarnopolsky MA, Ainsworth PJ, Lin H, Rodenhiser DI, Krantz ID, Deardorff MA, Schwartz CE, Sadikovic B. (2019). Am J Hum Genet. 104:685-700.
1 Fortbildungspunkte
14.00 - 15.00 Uhr | 17. Mai 2019
Journal Club
Moritz Hebebrand stellt vor: "Lentiviral Gene Therapy Combined with Low-Dose Busulfan in Infants with SCID-X1"
Mamcarz E, Zhou S, Lockey T, Abdelsamed H, Cross SJ, ..., Malech HL, Puck JM, Cowan MJ, Sorrentino BP. (2019). N Engl J Med. 380:1525-1534.
14.00 - 15.00 Uhr | 10. Mai 2019
Journal Club
Anne Gregor stellt vor: "Genetic compensation triggered by mutant mRNA degradation"
El-Brolosy MA, Kontarakis Z, Rossi A, Kuenne C, Günther S, Fukuda N, Kikhi K, Boezio GLM, Takacs CM, Lai SL, Fukuda R, Gerri C, Giraldez AJ, Stainier DYR. (2019). Nature 568: 193–197.
14.00 - 15.00 Uhr | 26. April 2019
Journal Club
Andreas Winterpacht stellt vor: "Liquid Nuclear Condensates Mechanically Sense and Restructure the Genome"
Shin Y, Chang YC, Lee DSW, Berry J, Sanders DW, Ronceray P, Wingreen N, Haataja M, Brangwynne CP. (2018). Cell 175: 1481-1491.
14.00 - 15.00 Uhr | 15. Februar 2019
Journal Club
Christiane Zweier stellt vor: "Dynamic 3D chromatin architecture contributes to enhancer specificity and limb morphogenesis"
Kragesteen BK, Spielmann M, Paliou C, ..., Nicodemi M, Mundlos S, Andrey G. (2019). Nature Genetics 50: 1463–1473.
14.00 - 15.00 Uhr | 08. Februar 2019
Journal Club
Christian Thiel stellt vor: "Identifying facial phenotypes of genetic disorders using deep learning"
Yaron Gurovich, Yair Hanani, Omri Bar, Guy Nadav, Nicole Fleischer, Dekel Gelbman, Lina Basel-Salmon, Peter M. Krawitz, Susanne B. Kamphausen, Martin Zenker, Lynne M. Bird & Karen W. Gripp. (2019). Nature Medicine 25: 60–64.
14.00 - 15.15 Uhr | 01. Februar 2019
Journal Club
Bernt Popp stellt vor: "Giant tortoise genomes provide insights into longevity and age-related disease"
Quesada V, Freitas-Rodríguez S, Miller J, ..., White KP, Caccone A, López-Otín C2. (2019). Nature Ecology & Evolution 3: 87-95.
14.00 - 15.00 Uhr | 25. Januar 2019
Journal Club
Christiane Zweier stellt vor: "Dynamic 3D chromatin architecture contributes to enhancer specificity and limb morphogenesis"
Kragesteen BK, Spielmann M, Paliou C, Heinrich V, ..., Visel A, Nicodemi M, Mundlos S, Andrey G. (2018). Nature Genetics 50: 1463–1473.
14.00 - 15.00 Uhr | 11. Januar 2019
Journal Club
Philipp Kirchner stellt vor: "Joint profiling of chromatin accessibility and gene expression in thousands of single cells"
Cao J, Cusanovich DA, Ramani V, Aghamirzaie D, Pliner HA, Hill AJ, Daza RM, McFaline-Figueroa JL, Packer JS, Christiansen L, Steemers FJ, Adey AC, Trapnell C, Shendure J. (2018). Science 361:1380-1385.
14.00 - 15.00 Uhr | 14. Dezember 2018
Journal Club
Marie-Theres Wittmann stellt vor: "Genetic identification of brain cell types underlying schizophrenia"
Skene NG, Bryois J, Bakken TE, Breen G,..., Walters JTR, Linnarsson S, Lein ES. (2018). Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium, Sullivan PF, Hjerling-Leffler J. Nat Genet. 50:825-833.
1 Fortbildungspunkte
14.00 - 15.00 Uhr | 07. Dezember 2018
Journal Club
Ulrike Hüffmeier stellt vor: "Integration of multi-omics data and deep phenotyping enables prediction of cytokine responses"
Bakker OB, Aguirre-Gamboa R, Sanna S, Oosting M, Smeekens SP, Jaeger M, Zorro M, Võsa U, Withoff S, Netea-Maier RT, Koenen HJPM, Joosten I, Xavier RJ, Franke L, Joosten LAB, Kumar V, Wijmenga C, Netea MG, Li Y. (2018). Nat Immunol. 19:776-786.
1 Fortbildungspunkte
14.00 - 15.00 Uhr | 30. November 2018
Journal Club
Steffen Uebe stellt vor:"Early human dispersals within the Americas"
Moreno-Mayar JV, Vinner L, de Barros Damgaard P,..., Song YS, Meltzer DJ, Willerslev E. (2018). Science. doi: 10.1126/science.aav2621. [Epub ahead of print]
1 Fortbildungspunkte
14.00 - 15.00 Uhr | 23. November 2018
Journal Club
Michel Hadjihannas stellt vor: "Epigenetic Regulation by BAF Complexes Limits Neural Stem Cell Proliferation by Suppressing Wnt Signaling in Late Embryonic Development"
Nguyen H, Kerimoglu C, Pirouz M, Pham L, Kiszka KA, Sokpor G, Sakib MS, Rosenbusch J, Teichmann U, Seong RH, Stoykova A, Fischer A, Staiger JF, Tuoc T. (2018). Stem Cell Reports 10: 1734-1750.
14.00 - 15.00 Uhr | 16. November 2018
Journal Club
Jonas Straub stellt vor: "Evaluating recovery potential of the northern white rhinoceros from cryopreserved somatic cells"
Tunstall T., Kock R., Vahala J., Diekhans M., Fiddes I. , Armstrong J. , Paten B., Ryder O.A., Steiner C.C. (2018). Genome Research 28: 780–788. Anna
14.00 - 15.00 Uhr | 09. November 2018
Journal Club
Prof. André Reis stellt vor: "Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence"
Savage J. E., Jansen P.R., Stringer S., ..., Vrieze S.I., Wright M.J., Posthuma D. (2018). Nature Genetics 50: 912–919.
14.00 - 15.00 Uhr | 26. Oktober 2018
Journal Club
Moritz Hebebrand stellt vor: "Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity"
Raraigh KS, Han ST, Davis E, Evans TA, Pellicore MJ, McCague AF, Joynt AT, Lu Z, Atalar M, Sharma N, Sheridan MB, Sosnay PR, Cutting GR. (2018). Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity. Am J Hum Genet. 102:1062-1077.
1 Fortbildungspunkte
14.00 - 15.00 Uhr | 13. Juli 2018
Journal Club
Georgia Vasileiou stellt vor: "Selective Loss of PARG Restores PARylation and Counteracts PARP Inhibitor-Mediated Synthetic Lethality"
Gogola E, Duarte AA, de Ruiter JR et al.,....., and Rottenberg S. (2018). Selective Loss of PARG Restores PARylation and Counteracts PARP Inhibitor-Mediated Synthetic Lethality. Cancer Cell 33:1078-1093.
14.00 Uhr | 06. Juli 2018
Journal Club
Stefan Haskamp stellt vor: "Long Noncoding RNAs CUPID1 and CUPID2 Mediate Breast Cancer Risk at 11q13 by Modulating the Response to DNA Damage"
Betts JA, Moradi Marjaneh M, Al-Ejeh F et al. and French JD. (2017). Am J Hum Genet. 101:255-266.
16.20 Uhr | 29. Juni 2018
Journal Club
Dr. Cornelia Kraus stellt vor: "Paternally inherited cis-regulatory structural variants are associated with autism"
Brandler WM, Antaki D, Gujral M, et al. and Sebat . (2018). Science. 360:327-331.
16.06 Uhr | 18. Juni 2018
Journal Club
Didem Seven stellt vor: "Transcriptome Analysis in Glioblastoma Patients"
Doktorarbeit
14.00 - 15.00 Uhr | 15. Juni 2018
Journal Club
Elisabeth Bosch stellt vor:"LINE-1 activation after fertilization regulates global chromatin accessibility in the early mouse embryo"
Jachowicz JW, Bing X, Pontabry J, Bošković A, Rando OJ, Torres-Padilla ME. (2017)Nat Genet. 49:1502-1510.
14.00 - 15.00 Uhr | 04. Mai 2018
Journal Club
Anne Gregor stellt vor: "Accurate functional classification of thousands of BRCA1 variants with saturation genome editing"
Findlay G.M., Daza R. M., Martin B., Zhang M. D., Leith A. P., Gasperini M., Janizek J.D., Huang X., Starita L. M., Shendure J. 2018. BioRxiv, preprint, doi: 10.1101/294520.
14.00 - 15.00 Uhr | 27. April 2018
Journal Club
Bernt Popp stellt vor: "A mutational signature reveals alterations underlying deficient homologous recombination repair in breast cancer"
Polak P, Kim J, Braunstein LZ, Karlic R, Haradhavala NJ, Tiao G, Rosebrock D, Livitz D, Kübler K, Mouw KW, Kamburov A, Maruvka YE, Leshchiner I, Lander ES, Golub TR, Zick A, Orthwein A, Lawrence MS, Batra RN Caldas C, Haber DA, Laird PW, Shen H, Ellisen LW, D'Andrea AD, Chanock SJ, Foulkes WD, Getz G. (2017.) Nat Genet. 49:1476-1486.
14.00 - 15.00 Uhr | 09. Februar 2018
Journal Club
Ulrike Hüffmeier stellt vor: "Genome-wide association study identifies distinct genetic contributions to prognosis and susceptibility in Crohn's disease"
Lee JC, Biasci D, Roberts R, Gearry RB, Mansfield JC, Ahmad T, Prescott NJ, Satsangi J, Wilson DC, Jostins L, Anderson CA; UK IBD Genetics Consortium, Traherne JA, Lyons PA, Parkes M, Smith KG. (2017). Nat Genet. 49:262-268.
02. - 01. Februar 2018
Journal Club
Arif Ekici stellt vor: "Next-generation mapping: a novel approach for detection of pathogenic structural variants with a potential utility in clinical diagnosis"
Barseghyan H, Tang W, Wang RT, Almalvez M, Segura E, Bramble MS, Lipson A, Douine ED, Lee H, Délot EC, Nelson SF, Vilain E. (2017). Genome Med. 9:90.
14.00 - 15.00 Uhr | 26. Januar 2018
Journal Club
Christiane Zweier stellt vor: "The Dynamic Landscape of Open Chromatin during Human Cortical Neurogenesis"
de la Torre-Ubieta L, Stein JL, Won H, Opland CK, Liang D, Lu D, Geschwind DH (2018). Cell 172:289-304.
14.00 - 15.00 Uhr | 19. Januar 2018
