Plasma DNA profile in DNASE1L3 deficiency

Type: Other
Archiver: European Genome-Phenome Archive (EGA)

1 Dataset 2 Publications

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID	Description	Technology	Samples
EGAD00001006216	Plasma DNA profile in DNASE1L3 deficiency	NextSeq 500 Sequel	37

Publications	Citations
Plasma DNA Profile Associated with DNASE1L3 Gene Mutations: Clinical Observations, Relationships to Nuclease Substrate Preference, and In Vivo Correction. Chan RWY, Serpas L, Ni M, Volpi S, Hiraki LT, Tam LS, Rashidfarrokhi A, Wong PCH, Tam LHP, Wang Y, Jiang P, Cheng ASH, Peng W, Han DSC, Tse PPP, Lau PK, Lee WS, Magnasco A, Buti E, Sisirak V, AlMutairi N, Chan KCA, Chiu RWK, Reizis B, Lo YMD. Am J Hum Genet 107: 2020 882-894	30
Fragmentation landscape of cell-free DNA revealed by deconvolutional analysis of end motifs. Zhou Z, Ma ML, Chan RWY, Lam WKJ, Peng W, Gai W, Hu X, Ding SC, Ji L, Zhou Q, Cheung PPH, Yu SCY, Teoh JYC, Szeto CC, Wong J, Wong VWS, Wong GLH, Chan SL, Hui EP, Ma BBY, Chan ATC, Chiu RWK, Chan KCA, Lo YMD, Jiang P. Proc Natl Acad Sci U S A 120: 2023 e2220982120	15

Publications

Citations

Plasma DNA Profile Associated with DNASE1L3 Gene Mutations: Clinical Observations, Relationships to Nuclease Substrate Preference, and In Vivo Correction.
Chan RWY, Serpas L, Ni M, Volpi S, Hiraki LT, Tam LS, Rashidfarrokhi A, Wong PCH, Tam LHP, Wang Y, Jiang P, Cheng ASH, Peng W, Han DSC, Tse PPP, Lau PK, Lee WS, Magnasco A, Buti E, Sisirak V, AlMutairi N, Chan KCA, Chiu RWK, Reizis B, Lo YMD. Am J Hum Genet 107: 2020 882-894

Fragmentation landscape of cell-free DNA revealed by deconvolutional analysis of end motifs.
Zhou Z, Ma ML, Chan RWY, Lam WKJ, Peng W, Gai W, Hu X, Ding SC, Ji L, Zhou Q, Cheung PPH, Yu SCY, Teoh JYC, Szeto CC, Wong J, Wong VWS, Wong GLH, Chan SL, Hui EP, Ma BBY, Chan ATC, Chiu RWK, Chan KCA, Lo YMD, Jiang P. Proc Natl Acad Sci U S A 120: 2023 e2220982120