P572: Detecting short tandem repeat expansions: Three-year experience with clinical whole genome sequencing (cWGS) for a rare and undiagnosed population
Main Authors: | , , , , , , , , , , |
---|---|
Format: | Article |
Language: | English |
Published: |
Elsevier
2023-01-01
|
Series: | Genetics in Medicine Open |
Online Access: | http://www.sciencedirect.com/science/article/pii/S2949774423006192 |
_version_ | 1797341943124983808 |
---|---|
author | Brittany Thomas Akanchha Kesari Aime Lumaka Mario Cornejo-Olivas David Ward Parul Jayakar Donald Basel Marilyn Jones Erin Thorpe Denise Perry Ryan Taft |
author_facet | Brittany Thomas Akanchha Kesari Aime Lumaka Mario Cornejo-Olivas David Ward Parul Jayakar Donald Basel Marilyn Jones Erin Thorpe Denise Perry Ryan Taft |
author_sort | Brittany Thomas |
collection | DOAJ |
first_indexed | 2024-03-08T10:26:17Z |
format | Article |
id | doaj.art-1747b6b0918d4f9a98f666555947576a |
institution | Directory Open Access Journal |
issn | 2949-7744 |
language | English |
last_indexed | 2024-03-08T10:26:17Z |
publishDate | 2023-01-01 |
publisher | Elsevier |
record_format | Article |
series | Genetics in Medicine Open |
spelling | doaj.art-1747b6b0918d4f9a98f666555947576a2024-01-27T07:09:53ZengElsevierGenetics in Medicine Open2949-77442023-01-0111100619P572: Detecting short tandem repeat expansions: Three-year experience with clinical whole genome sequencing (cWGS) for a rare and undiagnosed populationBrittany Thomas0Akanchha Kesari1Aime Lumaka2Mario Cornejo-Olivas3David Ward4Parul Jayakar5Donald Basel6Marilyn Jones7Erin Thorpe8Denise Perry9Ryan Taft10Illumina, Inc., San Diego, CAIllumina, Inc., San Diego, CACentre For Human Genetics, University of Kinshasa, Democratic Republic of the CongoInstituto Nacional de Ciencias Neurologicas, Lima, PeruSanford Health, Sioux Falls, SDNicklaus Children's Hospital, Miami, FLChildren's Hospital of Wisconsin, Milwaukee, WIRady Children's Hospital, San Diego, CAIllumina, Inc., San Diego, CAIllumina, Inc., San Diego, CAIllumina, Inc., San Diego, CAhttp://www.sciencedirect.com/science/article/pii/S2949774423006192 |
spellingShingle | Brittany Thomas Akanchha Kesari Aime Lumaka Mario Cornejo-Olivas David Ward Parul Jayakar Donald Basel Marilyn Jones Erin Thorpe Denise Perry Ryan Taft P572: Detecting short tandem repeat expansions: Three-year experience with clinical whole genome sequencing (cWGS) for a rare and undiagnosed population Genetics in Medicine Open |
title | P572: Detecting short tandem repeat expansions: Three-year experience with clinical whole genome sequencing (cWGS) for a rare and undiagnosed population |
title_full | P572: Detecting short tandem repeat expansions: Three-year experience with clinical whole genome sequencing (cWGS) for a rare and undiagnosed population |
title_fullStr | P572: Detecting short tandem repeat expansions: Three-year experience with clinical whole genome sequencing (cWGS) for a rare and undiagnosed population |
title_full_unstemmed | P572: Detecting short tandem repeat expansions: Three-year experience with clinical whole genome sequencing (cWGS) for a rare and undiagnosed population |
title_short | P572: Detecting short tandem repeat expansions: Three-year experience with clinical whole genome sequencing (cWGS) for a rare and undiagnosed population |
title_sort | p572 detecting short tandem repeat expansions three year experience with clinical whole genome sequencing cwgs for a rare and undiagnosed population |
url | http://www.sciencedirect.com/science/article/pii/S2949774423006192 |
work_keys_str_mv | AT brittanythomas p572detectingshorttandemrepeatexpansionsthreeyearexperiencewithclinicalwholegenomesequencingcwgsforarareandundiagnosedpopulation AT akanchhakesari p572detectingshorttandemrepeatexpansionsthreeyearexperiencewithclinicalwholegenomesequencingcwgsforarareandundiagnosedpopulation AT aimelumaka p572detectingshorttandemrepeatexpansionsthreeyearexperiencewithclinicalwholegenomesequencingcwgsforarareandundiagnosedpopulation AT mariocornejoolivas p572detectingshorttandemrepeatexpansionsthreeyearexperiencewithclinicalwholegenomesequencingcwgsforarareandundiagnosedpopulation AT davidward p572detectingshorttandemrepeatexpansionsthreeyearexperiencewithclinicalwholegenomesequencingcwgsforarareandundiagnosedpopulation AT paruljayakar p572detectingshorttandemrepeatexpansionsthreeyearexperiencewithclinicalwholegenomesequencingcwgsforarareandundiagnosedpopulation AT donaldbasel p572detectingshorttandemrepeatexpansionsthreeyearexperiencewithclinicalwholegenomesequencingcwgsforarareandundiagnosedpopulation AT marilynjones p572detectingshorttandemrepeatexpansionsthreeyearexperiencewithclinicalwholegenomesequencingcwgsforarareandundiagnosedpopulation AT erinthorpe p572detectingshorttandemrepeatexpansionsthreeyearexperiencewithclinicalwholegenomesequencingcwgsforarareandundiagnosedpopulation AT deniseperry p572detectingshorttandemrepeatexpansionsthreeyearexperiencewithclinicalwholegenomesequencingcwgsforarareandundiagnosedpopulation AT ryantaft p572detectingshorttandemrepeatexpansionsthreeyearexperiencewithclinicalwholegenomesequencingcwgsforarareandundiagnosedpopulation |