Insights from the Biorepository and Integrative Genomics pediatric resource
Abstract
Abstract The Biorepository and Integrative Genomics (BIG) Initiative in Tennessee has developed a pioneering resource to address gaps in genomic research by linking genomic, phenotypic, and environmental data from a diverse Mid-South population, including underrepresented groups. We analyzed 13,152 exomes from BIG and found significant genetic diversity, with 50% of participants inferred to have non-European or several types of admixed ancestry. Ancestry within the BIG cohort is stratified, with distinct geographic and demographic patterns, as African ancestry is more common in urban areas, while European ancestry is more common in suburban regions. We observe ancestry-specific rates of novel genetic variants, which are enriched for functional or clinical relevance. Disease prevalence analysis linked ancestry and environmental factors, showing higher odds ratios for asthma and obesity in minority groups, particularly in the urban area. Finally, we observe discrepancies between self-reported race and genetic ancestry, with related individuals self-identifying in differing racial categories. These findings underscore the limitations of race as a biomedical variable. BIG has proven to be an effective model for community-centered precision medicine. We integrated genomics education, and fostered great trust among the contributing communities. Future goals include cohort expansion, and enhanced genomic analysis, to ensure equitable healthcare outcomes.
Article Details
Authors (194)
Silvia Buonaiuto
Franco Marsico
Akram Mohammed
Lokesh K. Chinthala
Ernestine K. Amos-Abanyie
Aris Baras
Gonçalo Abecasis
Adolfo Ferrando
Giovanni Coppola
Andrew Deubler
Aris Economides
Luca A. Lotta
John D. Overton
Jeffrey G. Reid
Alan Shuldiner
Katherine Siminovitch
Jason Portnoy
Marcus B. Jones
Lyndon Mitnaul
Alison Fenney
Jonathan Marchini
Manuel Allen Revez Ferreira
Maya Ghoussaini
Mona Nafde
William Salerno
Christina Beechert
Erin Fuller
Laura M. Cremona
Eugene Kalyuskin
Hang Du
Caitlin Forsythe
Zhenhua Gu
Kristy Guevara
Michael Lattari
Alexander Lopez
Kia Manoochehri
Prathyusha Challa
Manasi Pradhan
Raymond Reynoso
Ricardo Schiavo
Maria Sotiropoulos Padilla
Chenggu Wang
Sarah E. Wolf
Amelia Averitt
Nilanjana Banerjee
Dadong Li
Sameer Malhotra
Justin Mower
Mudasar Sarwar
Deepika Sharma
Sean Yu
Aaron Zhang
Muhammad Aqeel
Manan Goyal
George Mitra
Sanjay Sreeram
Rouel Lanche
Vrushali Mahajan
Sai Lakshmi Vasireddy
Gisu Eom
Krishna Pawan Punuru
Sujit Gokhale
Benjamin Sultan
Pooja Mule
Eliot Austin
Xiaodong Bai
Lance Zhang
Sean O’Keeffe
Razvan Panea
Evan Edelstein
Ayesha Rasool
Evan K. Maxwell
Boris Boutkov
Alexander Gorovits
Ju Guan
Lukas Habegger
Alicia Hawes
Olga Krasheninina
Samantha Zarate
Adam J. Mansfield
Joshua Backman
Kathy Burch
Adrian Campos
Liron Ganel
Sheila Gaynor
Benjamin Geraghty
Arkopravo Ghosh
Salvador Romero Martinez
Christopher Gillies
Lauren Gurski
Joseph Herman
Eric Jorgenson
Tyler Joseph
Michael Kessler
Jack Kosmicki
Adam Locke
Priyanka Nakka
Karl Landheer
Olivier Delaneau
Anthony Marcketta
Joelle Mbatchou
Arden Moscati
Aditeya Pandey
Anita Pandit
Jonathan Ross
Carlo Sidore
Eli Stahl
Timothy Thornton
Sailaja Vedantam
Rujin Wang
Kuan-Han Wu
Bin Ye
Blair Zhang
Andrey Ziyatdinov
Yuxin Zou
Jingning Zhang
Kyoko Watanabe
Mira Tang
Frank Wendt
Suganthi Balasubramanian
Suying Bao
Kathie Sun
Chuanyi Zhang
Brian Hobbs
Jon Silver
William Palmer
Rita Guerreiro
Amit Joshi
Sr. Specialist, Department of Forensic Medicine, Government Medical College, Kota, Rajasthan, India
Antoine Baldassari
Cristen Willer
Sarah Graham
Ernst Mayerhofer
Erola Pairo Castineira
Mary Haas
Niek Verweij
George Hindy
Jonas Bovijn
Tanima De
Parsa Akbari
Luanluan Sun
Olukayode Sosina
Arthur Gilly
Peter Dornbos
Juan Rodriguez-Flores
Moeen Riaz
Manav Kapoor
Gannie Tzoneva
Momodou W. Jallow
Anna Alkelai
Ariane Ayer
Veera Rajagopal
Sahar Gelfman
Vijay Kumar
Jacqueline Otto
Neelroop Parikshak
Aysegul Guvenek
Jose Bras
Silvia Alvarez
Jessie Brown
Jing He
Hossein Khiabanian
Joana Revez
Kimberly Skead
Valentina Zavala
Jae Soon Sul
Lei Chen
Sam Choi
Amy Damask
Nan Lin
Charles Paulding
Esteban Chen
Michelle G. LeBlanc
Jason Mighty
Jennifer Rico-Varela
Nirupama Nishtala
Nadia Rana
Jaimee Hernandez
Randi Schwartz
Jody Hankins
Anna Han
Samuel Hart
Ann Perez-Beals
Gina Solari
Johannie Rivera-Picart
Michelle Pagan
Sunilbe Siceron
Pjotr Prins
Khyobeni Mozhui
Robert J. Rooney
Robert W. Williams
Robert L. Davis
Terri H. Finkel
Chester W. Brown
Vincenza Colonna