ASHG 2020 Virtual Meeting: Presentations by SFARI Investigators and Collaborators

A number of SFARI Investigators, collaborators and Simons Foundation scientists will present their latest research findings at the American Society of Human Genetics (ASHG) 2020 Virtual Meeting, which will be held October 27–30.  A professional development career day, featuring virtual panel sessions and poster presentations, will be held before the official meeting begins (on October 26).

A selection of these presentations is highlighted below.

Complex contributions of de novo mutation, rare-inherited variants and polygenic risk to autism spectrum disorder^*1
D. Antaki, A. Maihofer, J. Guevara, W.M. Brandler, M. Gujral, O. Hong, P. Tandon, K.K. Vaux, S. F. Kingsmore, J.G. Gleeson, M.J. Arranz, E. Courchesne, K. Pierce, A. Muotri, L.M. Iakoucheva, A. Hervás, C. Corsello, C.M. Nievergelt, J. Sebat

Altered cortical gene regulation in mice harboring autism-associated TBR1 mutations
M. Co, R.M. Mulqueen, S. Grindstaff, J. Jahncke, B.A. DeRosa, R.A. Barnard, L. Fedorov, K.M. Wright, B.J. O’Roak

A cross-disorder dosage sensitivity map of the human genome
R.L. Collins, J. Glessner, E. Porcu, L.-M. Niestroj, G. Kellaris, J.C. Ulirsch, K. Mohajeri, J. Fu, C. Lowther, D.P. Howrigan, X. Nuttle, P.M. Boone, S. Sanders, A. Reymond, H. Finucane, B.M. Neale, J.C. Hodge, D. Lal, H. Hakonarson, Z. Kutalik, N. Katsanis, S. Sunyaev, E.E. Davis, H. Brand, M.E. Talkowski

Analysis of multiple genomic variations by gene ontogeny correlation analysis identify functional groups unique to ASD with macrocephaly^*1
C. Fu, S. Zhang, L. Lu, F. Jin, F. Schumacher, A. Wynshaw-Boris

Rare deleterious mutations of hnRNP genes and shared neurodevelopmental disorders^*2
M. Gillentine, T. Wang, K. Hoekzema, J.A. Rosenfeld, P. Liu, SPARK Consortium, T. Nowakowski, B. de Vries, ASID Network, M.R. Iascone, S. Maitz, G. Zanni, C. Zweier, R. Earl, E. Torti, F. Abid, I. Anselm, P.S. Atwal, C.A. Bacino, L.M. Bird, J. Friedman, B.L. Callewaert, S. Mathieu, C.K. Christensen, E. Espineli, T. Feyma, S. Hughes, K.L. Keller, B. Keren, A.A. Basinger, M.K. Kukolich, M. Lauridsen, A.M. Lehman, CAUSES Study, P.A. Levy, D. Lessel, T. Lotze, S. Maden-Khetarpal, D. Vats, L. Manace, S.A. McKee, G. Mirzaa, C. Muss, J. Pappas, K.L. Simpson, R.F. Stratton, I. Valenzuela, E.E. Eichler

Full-length transcript sequencing of human and mouse identifies widespread isoform diversity and alternative splicing in the brain
A.R. Jeffries, S. Leung, K. Moore, J. Davies, N. Bray, E. Tseng, I. Castanho, D. Collier, P. O’Neill, E. Hannon, J. Mill

Patterns of genetic variant combinations determine the phenotypic trajectory of neurodevelopmental disorders
M.C. Jensen, L. Pizzo, A. Tyryshkina, C. Smolen, L. Rohan, E. Huber, M. Das, V.K. Pounraja, C.M. Taylor, A. Krishnan, 16p12.1 Deletion Consortium, S. Girirajan

Estimation of deleterious effect of noncoding variants mediated by RNA-binding proteins in developmental disorders by using deep learning integration of large population genomes
A. Kitaygorodsky, E. Jin, Y. Shen

A gold-standard validation panel for genotyping disease-relevant tandem repeats
N. Ma, S. Shleizer-Burko, N. Mousavi, M. Gymrek

The contribution of de novo tandem repeat mutations to autism spectrum disorders^*1
I. Mitra, N. Mousavi, N. Ma, M. Lamkin, R. Yanicky, S. Shleizer-Burko, M. Gymrek

Functional assessment of the “two-hit” model for neurodevelopmental defects in Drosophila and X. laevis models of 16p12.1 deletion
L. Pizzo, M. Lasser, T. Yusuff, M.C. Jensen, P. Ingraham, E. Huber, M.D. Singh, C. Monahan, J.S. Iyer, I. Desai, S. Karthikeyan, A. Weiner, A. Krishnan, M.M. Rolls, L. Lowery, S. Girirajan

Genome-wide molecular effects of the neuropsychiatric 16p11 CNVs in an iPSC-iN neuronal model^*3
A.E. Urban, T.R. Ward, B. Zhou, S. Ho, J.F. Hallmayer, T. Palmer, X. Zhang

A phenotypical brain organoids atlas for neurodevelopment disorders
L. Wang, D. Sievert, J.G. Gleeson

BAZ2B haploinsufficiency causes developmental delay, intellectual disability and autism spectrum disorder
D.A. Scott, T.M. Scott, H. Guo, E.E. Eichler, J.A. Rosenfeld, K. Pang, Z. Liu, S.R. Lalani, W. Bi, Y. Yang, C.A. Bacino, H. Streff, A.L. Lewis, M. Koenig, I. Thiffault, A. Bellomo, D.B. Everman, J.R. Jones, R.E. Stevenson, R. Bernier, C. Gillissen, R. Pfundt, S. Hiatt, G.M. Cooper, J.L. Holder

Parallel RNA and DNA analysis after deep-sequencing (PRDD-seq) reveals cell type-specific lineage patterns in human brain development at single-cell resolution^*4
Y. Huang, P. Li, R.E. Rodin, S.N. Kim, Y. Dou, C.J. Kenny, S.K. Akula, R.D. Hodge, T.E. Bakken, J.A. Miller, E.S. Lein, P.J. Park, E. Lee, C.A. Walsh

Integrated analysis of 28,642 individuals recruited online identifies new ASD risk genes and highlights the interplay of de novo and inherited variants^*2
X. Zhou, T. Wang, P. Feliciano, J. Hall, S.C. Murali, N. Zhu, S. Bruce, I. Astrovskaya, L. Brueggeman, J. Wright, S. Xu, O. Marchenko, C. Fleisch, T. Chang, L. Green Snyder, T. Turner, B. Han, W. Harvey, A. Nishida, R.N. Doan, A. Soucy, The SPARK Consortium, T.W. Yu, B.J. O’Roak, N. Volfovsky, D.H. Geschwind, J.J. Michaelson, E.E. Eichler, Y. Shen, W.K. Chung

Integrative and comparative analysis of autism spectrum disorder and developmental delay from over 200,000 exome sequenced individuals^*2
J. Fu, F. Satterstrom, H. Brand, S. Dong, S. De Rubeis, H.Z. Wang, X. Zhao, R.L. Collins, C.E. Carey, C. van der Merwe, C.R. Stevens, C. Cusick, Autism Sequencing Consortium, D.E. Dickel, L.A. Pennacchio, L. Klei, A.D. Borglum, E.B. Robinson, D.J. Cutler, J.D. Buxbaum, M.J. Daly, K.M. Roeder, B. Devlin, S. Sanders, M.E. Talkowski

Inference of fitness effects of short tandem repeat polymorphisms improves functional categorization
B. Huang, K.E. Lohmueller, M. Gymrek

Analysis of 10,000 genomes identifies two enhancers with a significant excess of de novo variants in autism^*2
E. Padhi, T.J. Hayeck, B. Mannion, S. Chatterjee, M. Byrska-Bishop, N. Stong, A.S. Allen, D.E. Dickel, L.A. Pennacchio, M. Zody, T. Turner

Return of individual genetic results in the largest recontactable cohort of individuals with autism^*2
J. Wright, S. Ganesan, J.B. Hall, B. Han, C. Diggins, T. Greene, S. Barns, The SPARK Consortium, N. Volfovsky, P. Feliciano, W.K. Chung

^* Uses data and/or resources from ¹ Simons Simplex Collection, ² SPARK, ³ Simons Searchlight, ⁴ Autism BrainNet.