Abstracts

Below is a list of a list of submitted GREGoR Consortium conference abstracts.

Title Lead Author Name of Professional Meeting Meeting Date(s) Submitted Program #/ID
The Multiple de novo Copy Number Variant (MdnCNV) phenomenon: peri-zygotic DNA mutational signatures and multilocus pathogenic variations Haowei Du ASHG - American Society of Human Genetics Annual Meeting October 25-29, 2022 PB2703
Application of RNA sequencing on transdifferentiated patient fibroblasts for genetic diagnosis of neurological disorders Liu, Pengfei ASHG - American Society of Human Genetics Annual Meeting October 25-29, 2022 434
Exome technology innovations advancing personalized medicine Walker, Kimberly ASHG - American Society of Human Genetics Annual Meeting October 25-29, 2022 PB2988
Multi-omic approach identifies a novel non-coding deletion at Xq28 in a patient with X-linked primary immunodeficiency. Bonner, Devon ASHG - American Society of Human Genetics Annual Meeting October 25-29, 2022 PB1922
Genome reference impacts RNA-seq interpretation and rare disease diagnosis Goddard, Pagé and Ungar, Rachel ASHG - American Society of Human Genetics Annual Meeting Oct 25-29, 2022 ProgNbr 553
Identification of TUBGCP2 and CAMSAP1 as novel neuronal migration disorder associated genes Mitani, Tadahiro 65th Annual Meeting of the Japanese Society of Child Neurology May 25-27, 2023 NA
Long-read sequencing reveals a novel pathogenic variant in IKBKG with associated skewed X-inactivation in affected females Miller, Danny ACMG - American College of Medical Genetics and Genomics March 14-18, 2023 P672
Applying the 2022 Guidelines for Non-Coding Variant Classification In a Large Rare Disease Cohort Groopman, Emily ACMG - American College of Medical Genetics and Genomics March 14-18 P474
Developing a Framework for Sequence Variant Interpretation for Multiple X-linked Inborn Errors of Metabolism: The ClinGen IEM Working Group Experience Groopman, Emily ACMG - American College of Medical Genetics and Genomics March 14-18 O04
Variants in Cohesin Release Factors WAPL, PDS5A, and PDS5B Define a New Class of Cohesinopathies Boone, Philip ACMG March 14-17, 2023 159
New approaches to increase rare disease diagnoses in GREGoR Montgomery, Stephen Genomics of Rare Disease March 23-26, 2023 Not available
Evaluation of missing disease-causing variation in autosomal recessive conditions using long-read sequencing Patterson, Karynne ASHG - American Society of Human Genetics Annual Meeting November 1-5, 2023 TBD
Data sharing in the GREGoR Consortium to support rare genetic disease research. Heavner, Ben ASHG - American Society of Human Genetics Annual Meeting November 1-5, 2023 not available
Long-read sequencing of 1000 Genomes Project samples to catalog normal patterns of human genome structural variation Gustafson, Jonas ASHG - American Society of Human Genetics Annual Meeting November 1-5, 2023 na
Biallelic FLVCR1 variants cause a disease spectrum from adult neurodegeneration to severe neurodevelopmental disorders through disrupted choline transport Calame, Daniel ASHG November 1-5, 2023 n/a
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