C
Cassandra B. Jabara
Publications - 2
Citations - 233
Cassandra B. Jabara is an academic researcher. The author has contributed to research in topics: Genome & Human genome. The author has an hindex of 2, co-authored 2 publications receiving 126 citations.
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Resolving the full spectrum of human genome variation using Linked-Reads.
Patrick Marks,Sarah T. Garcia,Alvaro Martinez Barrio,Kamila Belhocine,Jorge Bernate,Rajiv Bharadwaj,Keith Bjornson,Claudia Catalanotti,Josh Delaney,Adrian Fehr,Ian T. Fiddes,Brendan Galvin,Haynes Heaton,Jill Herschleb,Christopher Hindson,Esty Holt,Cassandra B. Jabara,Susanna Jett,Nikka Keivanfar,Sofia Kyriazopoulou-Panagiotopoulou,Monkol Lek,Bill Kengli Lin,Adam Lowe,Shazia Mahamdallie,Shamoni Maheshwari,Tony Makarewicz,Jamie L. Marshall,Francesca Meschi,Christopher J. O'Keefe,Heather Ordonez,Pranav Patel,Andrew D. Price,Ariel Royall,Elise Ruark,Sheila Seal,Michael Schnall-Levin,Preyas Shah,David Stafford,Stephen R. Williams,Indira Wu,Andrew Wei Xu,Nazneen Rahman,Daniel G. MacArthur,Daniel G. MacArthur,Deanna M. Church +44 more
TL;DR: The data presented here show that Linked-Reads provide a scalable approach for comprehensive genome analysis that is not possible using short reads alone, and allows for simultaneous detection of small and large variants from a single library.
Posted ContentDOI
Resolving the Full Spectrum of Human Genome Variation using Linked-Reads
Patrick Marks,Sarah T. Garcia,Alvaro Martinez Barrio,Kamila Belhocine,Jorge Bernate,Rajiv Bharadwaj,Keith Bjornson,Claudia Catalanotti,Josh Delaney,Adrian Fehr,Brendan Galvin,Haynes Heaton,Jill Herschleb,Christopher Hindson,Esty Holt,Cassandra B. Jabara,Susanna Jett,Nikka Keivanfar,Sofia Kyriazopoulou-Panagiotopoulou,Monkol Lek,Bill Kengli Lin,Adam Lowe,Shazia Mahamdallie,Shamoni Maheshwari,Tony Makarewicz,Jamie L. Marshall,Francesca Meschi,Christopher J. O'Keefe,Heather Ordonez,Pranav Patel,Andrew D. Price,Ariel Royall,Elise Ruark,Sheila Seal,Michael Schnall-Levin,Preyas Shah,Stephen R. Williams,Indira Wu,Andrew Wei Xu,Nazneen Rahman,Daniel G. MacArthur,Deanna M. Church +41 more
TL;DR: The ability of Linked-Reads to reconstruct megabase scale haplotypes and to recover parts of the genome that are typically inaccessible to short reads, including phenotypically important genes such as STRC, SMN1 and SMN2 are demonstrated.