Andrea Haessly
A5012582092- Genomics and Rare Diseases
- Mitochondrial Function and Pathology
- Genetic Associations and Epidemiology
- Cancer Genomics and Diagnostics
- Metabolism and Genetic Disorders
- Neuroscience and Neuropharmacology Research
- Genomics and Phylogenetic Studies
- Microtubule and mitosis dynamics
- RNA and protein synthesis mechanisms
- Genomic variations and chromosomal abnormalities
Broad Institute
2021-2024
The University of Texas at Austin
2022
Abstract Comprehensively mapping the genetic basis of human disease across diverse individuals is a long-standing goal for field genetics 1–4 . The All Us Research Program longitudinal cohort study aiming to enrol group at least one million USA accelerate biomedical research and improve health 5,6 Here we describe programme’s genomics data release 245,388 clinical-grade genome sequences. This resource unique in its diversity as 77% participants are from communities that historically...
Genomic databases of allele frequency are extremely helpful for evaluating clinical variants unknown significance; however, until now, such as the Genome Aggregation Database (gnomAD) have focused on nuclear DNA and ignored mitochondrial genome (mtDNA). Here, we present a pipeline to call mtDNA that addresses three technical challenges: (1) detecting homoplasmic heteroplasmic variants, present, respectively, in all or fraction molecules; (2) circular genome; (3) misalignment sequences origin...
ABSTRACT Databases of allele frequency are extremely helpful for evaluating clinical variants unknown significance; however, until now, genetic databases such as the Genome Aggregation Database (gnomAD) have ignored mitochondrial genome (mtDNA). Here we present a pipeline to call mtDNA that addresses three technical challenges: (i) detecting homoplasmic and heteroplasmic variants, respectively in all or fraction molecules, (ii) circular genome, (iii) misalignment nuclear sequences origin...