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
Performance of diagnostic methods in identifying disease-causing variants: assessment of the Rare Genomes Project CAGI challenge Sarah L. Stenton ASHG - American Society of Human Genetics Annual Meeting October 25-29, 2022 ProgNbr 052
Relative contribution of variant prioritization and phenotype similarity to performance of automatic genome analysis algorithms Khanam, Shirin ASHG - American Society of Human Genetics Annual Meeting Nov 1-5, 2023 PB3269
Saturation genome editing reveals 10% of missense SNV alleles in functional domains of PALB2 as functionally abnormal Moez Dawood ASHG - American Society of Human Genetics Annual Meeting October 25-29, 2022 ProgNbr 147
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder with intellectual disability and variable marfanoid habitus A. Garde ASHG - American Society of Human Genetics Annual Meeting October 25-29, 2022 PB1974
TCEAL1 loss-of-function results in an X-linked dominant neurological syndrome and drives the neurological disease trait in Xq22.2 deletion Hadia Hijazi ASHG - American Society of Human Genetics Annual Meeting October 25-29, 2022 PB1981
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
Unraveling the Intrafamilial Phenotypic Variability in Sibling Pairs with Neurodevelopmental Diseases Bozkurt-Yozgatli, Tugce ASHG - American Society of Human Genetics Annual Meeting November 1-5, 2023 2023-A-3286-ASHG
Using Multiplexed Functional Data to Reduce the VUS Burden in Populations Underrepresented in Genomic Medicine Dawood, Moez ACMG - American College of Medical Genetics and Genomics March 12-16, 2024 Featured Platform Presentations: 14-Mar-2024 8:00 AM
Variants in Cohesin Release Factors WAPL, PDS5A, and PDS5B Define a New Class of Cohesinopathies Boone, Philip ACMG March 14-17, 2023 159
VizCNV: An integrated platform for CNV detection and analysis of genome sequencing data Du, Haowei ASHG - American Society of Human Genetics Annual Meeting 11/2/2023 PB3523
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