One is the loneliest number: genotypic matchmaking using the electronic health record
Genet Med
.
2021 Oct;23(10):1830-1832.
doi: 10.1038/s41436-021-01179-w.
Epub 2021 Jul 6.
Authors
Elly Brokamp
1
,
Mary E Koziura
2
,
John A Phillips 3rd
2
,
Leigh Anne Tang
3
,
Joy D Cogan
2
,
Lynette C Rives
2
,
Amy K Robertson
2
,
Laura Duncan
2
,
Anna Bican
2
,
Josh F Peterson
3
,
John H Newman
4
,
Rizwan Hamid
2
,
Lisa Bastarache
3
;
Undiagnosed Diseases Network
Collaborators
Undiagnosed Diseases Network
:
Mercedes E Alejandro
,
Mahshid S Azamian
,
Carlos A Bacino
,
Ashok Balasubramanyam
,
Bret L Bostwick
,
Lindsay C Burrage
,
Hsiao-Tuan Chao
,
Gary D Clark
,
William J Craigen
,
Shweta U Dhar
,
Lisa T Emrick
,
Alica M Goldman
,
Neil A Hanchard
,
Fariha Jamal
,
Lefkothea Karaviti
,
Seema R Lalani
,
Brendan H Lee
,
Richard A Lewis
,
Ronit Marom
,
Paolo M Moretti
,
David R Murdock
,
Sarah K Nicholas
,
James P Orengo
,
Jennifer E Posey
,
Lorraine Potocki
,
Jill A Rosenfeld
,
Susan L Samson
,
Daryl A Scott
,
Alyssa A Tran
,
Tiphanie P Vogel
,
Hugo J Bellen
,
Michael F Wangler
,
Shinya Yamamoto
,
Christine M Eng
,
Pengfei Liu
,
Patricia A Ward
,
David B Goldstein
,
Nicholas Stong
,
Heidi Cope
,
Yong-Hui Jiang
,
Allyn McConkie-Rosell
,
Kelly Schoch
,
Vandana Shashi
,
Rebecca C Spillmann
,
Jennifer A Sullivan
,
Queenie K-G Tan
,
Nicole M Walley
,
Pankaj Agrawal
,
Alan H Beggs
,
Gerard T Berry
,
Lauren C Briere
,
Cynthia M Cooper
,
Laurel A Cobban
,
Elizabeth L Fieg
,
Frances High
,
Ingrid A Holm
,
Susan Korrick
,
Joel B Krier
,
Sharyn A Lincoln
,
Joseph Loscalzo
,
Richard L Maas
,
Calum A MacRae
,
J Carl Pallais
,
Lance H Rodan
,
Edwin K Silverman
,
Joan M Stoler
,
David A Sweetser
,
Melissa Walker
,
Chris A Walsh
,
Cecilia Esteves
,
Emily G Kelley
,
Isaac S Kohane
,
Kimberly LeBlanc
,
Alexa T McCray
,
Matthew Might
,
David P Bick
,
Camille L Birch
,
Braden E Boone
,
Donna M Brown
,
Daniel C Dorset
,
Angela L Jones
,
Jozef Lazar
,
Shawn E Levy
,
Thomas May
,
J Scott Newberry
,
Elizabeth A Worthey
,
Ian R Lanza
,
Devin Oglesbee
,
Eva Morava-Kozicz
,
Brendan C Lanpher
,
Surendra Dasari
,
Guney Bademci
,
Deborah Barbouth
,
Stephanie Bivona
,
Olveen Carrasquillo
,
Ta Chen Peter Chang
,
Irman Forghani
,
Alana Grajewski
,
Rosario Isasi
,
Byron Lam
,
Roy Levitt
,
Xue Zhong Liu
,
Jacob McCauley
,
Ralph Sacco
,
Mario Saporta
,
Judy Schaechter
,
Mustafa Tekin
,
Fred Telischi
,
Willa Thorson
,
Stephan Zuchner
,
Gabriel F Batzli
,
Heather A Colley
,
Jyoti G Dayal
,
David J Eckstein
,
Donna M Krasnewich
,
Laura A Mamounas
,
Teri A Manolio
,
John J Mulvihill
,
Robb K Rowley
,
Catherine H Sillari
,
Cecelia P Tamburro
,
Tiina K Urv
,
Anastasia L Wise
,
Maria T Acosta
,
Carsten Bonnenmann
,
Elizabeth A Burke
,
Precilla D'Souza
,
Mariska Davids
,
David D Draper
,
Tyra Estwick
,
Carlos Ferreira
,
Rena A Godfrey
,
Catherine A Groden
,
Jean M Johnston
,
C Christopher Lau
,
Ellen F Macnamara
,
Valerie V Maduro
,
Thomas C Markello
,
Marie Morimoto
,
Avi Nath
,
Donna Novacic
,
Barbara N Pusey
,
Prashant Sharma
,
Camilo Toro
,
Colleen E Wahl
,
Guoyun Yu
,
Andrea L Gropman
,
Eva Baker
,
David R Adams
,
William A Gahl
,
May Christine V Malicdan
,
Cynthia J Tifft
,
Lynne A Wolfe
,
John Yang
,
Matthew Brush
,
Jean-Philippe F Gourdine
,
Melissa Haendel
,
David M Koeller
,
Jennifer E Kyle
,
Thomas O Metz
,
Katrina M Waters
,
Bobbie-Jo M Webb-Robertson
,
Euan A Ashley
,
Jonathan A Bernstein
,
Devon Bonner
,
Terra R Coakley
,
Liliana Fernandez
,
Paul G Fisher
,
Jason Hom
,
Yong Huang
,
Jennefer N Kohler
,
Marta M Majcherska
,
Shruti Marwaha
,
Colleen E McCormack
,
Chloe M Reuter
,
Jacinda B Sampson
,
Kevin S Smith
,
Matthew T Wheeler
,
Diane B Zastrow
,
Chunli Zhao
,
Maura Ruzhnikov
,
Laure Fresard
,
Holly K Tabor
,
Archana N Raja
,
Gill Bejerano
,
Beth A Martin
,
Shirley Sutton
,
Patrick Allard
,
Manish J Butte
,
Esteban C Dell'Angelica
,
Naghmeh Dorrani
,
Emilie D Douine
,
Brent L Fogel
,
Alden Huang
,
Deborah Krakow
,
Hane Lee
,
Sandra K Loo
,
Martin G Martin
,
Julian A Martínez-Agosto
,
Stanley F Nelson
,
Christina G S Palmer
,
Jeanette C Papp
,
Neil H Parker
,
Genecee Renteria
,
Rebecca H Signer
,
Janet S Sinsheimer
,
Jijun Wan
,
Lee-Kai Wang
,
Jeremy D Woods
,
Amanda J Yoon
,
Lorenzo Botto
,
Ashley Andrews
,
Nicola Longo
,
John Carey
,
John Bohnsack
,
Dave Viskochil
,
Moretti Paolo
,
Pace Laura
,
Justin Alvey
,
Jim Bale
,
Gabor Marth
,
Matt Velinder
,
Aaron Quinlan
,
Rong Mao
,
Pinar Bayrak-Toydemir
,
John H Postlethwait
,
Monte Westerfield
,
Lisa Shakachite
,
F Sessions Cole
,
Nichole Hayes
,
Dana Kiley
,
Kathleen Shields
,
Kathy Sisco
,
Jennifer Wambach
,
Daniel Wegner
,
Dustin Baldridge
,
Timothy Schedl
,
Lilianna Solnica-Krezel
,
Stephen Pak
,
Jimann Shin
Affiliations
1
Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, USA.
[email protected]
.
2
Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, USA.
3
Center for Precision Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
4
Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
PMID:
34230636
PMCID:
PMC11140587
DOI:
10.1038/s41436-021-01179-w
No abstract available
MeSH terms
Electronic Health Records*
Genotype
Humans
Grants and funding
U01 HG007672/HG/NHGRI NIH HHS/United States
U01 HG007674/HG/NHGRI NIH HHS/United States
U01 NS134349/NS/NINDS NIH HHS/United States