Nikhita Damaraju
@nikhita.bsky.social
PhD student @UWSPH | MS @ColumbiaMSPH | undergrad @iitmadras || Public Health | Genomics | Statistics |
Honored to be featured during Public Health Genetics week!
May 28, 2025 at 8:13 PM
Honored to be featured during Public Health Genetics week!
Reposted by Nikhita Damaraju
Been looking forward to sharing this for a long time! Great collaboration with folks from across the world in which we identified a SVA_E insertion missed by standard clinical testing in individuals with Canavan disease, an early onset neurodegenerative disease.
www.medrxiv.org/content/10.1...
www.medrxiv.org/content/10.1...
A Diagnostic Blind Spot: Deep intronic SVA_E Insertion identified as the most Common Pathogenic Variant Associated with Canavan Disease
Canavan disease (CD) is a neurodegenerative disorder caused by biallelic disease-causing variants in the ASPA gene. Here, we utilized long-read sequencing (LRS) to investigate eight individuals clinic...
www.medrxiv.org
December 23, 2024 at 2:49 AM
Been looking forward to sharing this for a long time! Great collaboration with folks from across the world in which we identified a SVA_E insertion missed by standard clinical testing in individuals with Canavan disease, an early onset neurodegenerative disease.
www.medrxiv.org/content/10.1...
www.medrxiv.org/content/10.1...
Reposted by Nikhita Damaraju
I created a long-read sequencing starter pack. I'm still finding people on here, so apologies if I missed you. Please suggest people who should be added and I'll add them! go.bsky.app/JGkefsJ
November 11, 2024 at 5:05 AM
I created a long-read sequencing starter pack. I'm still finding people on here, so apologies if I missed you. Please suggest people who should be added and I'll add them! go.bsky.app/JGkefsJ
Reposted by Nikhita Damaraju
Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variation https://www.medrxiv.org/content/10.1101/2024.03.05.24303792v1
Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variation https://www.medrxiv.org/content/10.1101/2024.03.05.24303792v1
Less than half of individuals with a suspected Mendelian condition receive a precise molecular diagn
www.medrxiv.org
March 7, 2024 at 8:40 PM
Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variation https://www.medrxiv.org/content/10.1101/2024.03.05.24303792v1