Genetic Jigsaw: Piecing Together the Human Pangenome — Dr. Eimear Kenny, a renown |
Dr. Eimear Kenny has significantly contributed to the creation of an inclusive human pangenome reference, led by the international Human Pangenome Reference Consortium. The reference currently includes genomes of 47 people, aiming to reach 350 by 2024. This endeavor seeks to represent human genetic diversity more accurately, aiding disease diagnosis and treatment, and minimizing health disparities.
Now, Dr. Kenny, a Professor of Medicine, and Genetics and Genomic Sciences, at the Icahn School of Medicine at Mount Sinai, can count herself as one of a handful of elite scientists worldwide whose vital contributions have led to the creation of the new human “pangenome” reference, a collection of genome sequences that captures significantly more human diversity.papers published last month.
The new pangenome reference includes genome sequences of 47 people, and the researchers aim to increase that number to 350 by mid-2024. Because each person carries a paired set of chromosomes, the current reference includes 94 distinct genome sequences, with a goal of reaching 700 distinct genome sequences by the completion of the project.
Dr. Kenny co-led a team using population genetics approaches, community engagement, and outreach to include genomes from diverse populations in the pangenome. This will help address issues of underrepresentation and bias in genomics research, and can improve thecompleted in 2003 covered about 92 percent of the total human genome sequence.
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