Benchmarking long-read genome sequence alignment tools for human genomics applications by Jonathan LoTempio, Emmanuele Delot, Eric Vilain

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Reprograming skin fibroblasts into Sertoli cells: a patient-specific tool to understand effects of genetic variants on gonadal development by Abhinav Parivesh, Emmanuèle Délot, Alejandra Reyes, Janelle Ryan, Surajit Bhattacharya, Vincent Harley, Eric Vilain

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P227: De novo GATA4 deletion in a 46,XX boy with hypospadias and pulmonic valve stenosis by Eyby Leon, Veronica Gomez-Lobo, Kim Shimy, Maureen Monaghan, Eric Vilain, Daniel Casella, Emmanuele Delot

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P148: Novel molecular diagnoses in individuals with holoprosencephaly and prior negative sequencing* by Andrea Cohen, Joel Hughes, Clifton Dalgard, Paul Kruszka, Emmanuele Delot, Vincent Fusaro, Eric Vilain, Maximilian Muenke, Seth Berger

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Technical considerations for placental tissue processing and the subsequent impact on genome-wide DNA methylation analysis by Kristen M. Kocher, Julius Ngwa, Kushal J. Kapse, Surajit Bhattacharya, Christopher Rossi, Emmanuele Delot, Adre duPlessis, Catherine Limperopoulos, Nickie Andescavage

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P821: Long-read sequencing resolves CYP21A2 alleles in congenital adrenal hyperplasia* by Emmanuèle Délot, Jean Monlong, Xiao Chen, Hayk Barseghyan, Surajit Bhattacharya, Jonathan LoTempio, Brandy McNulty, Shloka Negi, Sara O'Rourke, Alexander Robertson, William Rowell, Seth Berger, Karen Miga, Benedict Paten, Jonah Cool, Eric Vilain

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Genome-wide profiling of highly similar paralogous genes using HiFi sequencing by Xiao Chen, Daniel Baker, Egor Dolzhenko, Joseph M. Devaney, Jessica Noya, April S. Berlyoung, Rhonda Brandon, Kathleen S. Hruska, Lucas Lochovsky, Paul Kruszka, Scott Newman, Emily Farrow, Isabelle Thiffault, Tomi Pastinen, Dalia Kasperaviciute, Christian Gilissen, Lisenka Vissers, Alexander Hoischen, Seth Berger, Eric Vilain, Emmanuèle Délot, UCI Genomics Research to Elucidate the Genetics of Rare diseases (UCI GREGoR) Consortium, Michael A. Eberle

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