Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Lucia R. Wu"'
Publikováno v:
iScience, Vol 25, Iss 10, Pp 105046- (2022)
Summary: Cell-free DNA (cfDNA) has become the predominant analyte of liquid biopsy; however, recent studies suggest the presence of subnucleosomal-sized DNA fragments in circulation that are likely single-stranded. Here, we report a method called dir
Externí odkaz:
https://doaj.org/article/43d6c0b12503424abaa9c7b457a5e6b6
Autor:
Lucia R. Wu, Yan Helen Yan, Christopher M. Grochowski, Ye Cao, Yaping Yang, Shalini N. Jhangiani, Chad A. Shaw, Pengfei Liu, David Zhang, Theresa A. Wilson, Tomasz Gambin, Justyna A. Karolak, Donna M. Muzny, Qian Liu, Christine M. Eng, James R. Lupski, Edward S. Chen, Nina G. Xie, Jennifer E. Posey, Zeynep Coban Akdemir, Pawel Stankiewicz
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
The goal of this study was to assess the scale of low-level parental mosaicism in exome sequencing (ES) databases. We analyzed approximately 2000 family trio ES data sets from the Baylor-Hopkins Center for Mendelian Genomics (BHCMG) and Baylor Geneti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86294219b3b72016d58c94bb82c77d1e
https://doi.org/10.1038/s41436-020-0897-z
https://doi.org/10.1038/s41436-020-0897-z
Autor:
Elizabeth K. Fiorino, Lucia R. Wu, Nina G. Xie, David Mowat, Przemyslaw Szafranski, Gustavo Rocha, Luk Ho-ming, David P. Witte, Justyna A. Karolak, Denise A. Hayes, Edwina J. Popek, Susana Fernandes, Ashley Parrott, Pawel Stankiewicz, Joyce E. Fox, David Zhang, Ivan F M Lo, Morris Edelman, Qian Liu
Publikováno v:
J Mol Diagn
Detection of low-level somatic mosaicism [alternate allele fraction (AAF) ≤ 10%] in parents of affected individuals with the apparent de novo pathogenic variants enables more accurate estimate of recurrence risk. To date, only a few systematic anal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::637c133c581e28704f0d6135cf25d8df
https://doi.org/10.1016/j.jmoldx.2019.12.007
https://doi.org/10.1016/j.jmoldx.2019.12.007
Autor:
John K. Petty, Pamela Trapane, Albino Bacolla, Zhiyv Niu, Qian Liu, David Zhang, Nina G. Xie, Rui Xiao, Patrick E. Lantz, Lucia R. Wu, Balagangadhar R. Totapally, Przemyslaw Szafranski, Karin Panzer, Justyna A. Karolak, Pawel Stankiewicz
Publikováno v:
American Journal of Medical Genetics Part A. 179:2272-2276
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a rare lethal lung developmental disease. Affected infants manifest with severe respiratory distress and refractory pulmonary hypertension and uniformly die in the first mo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6f2e9919d24e947a5ead62d9ed47015
https://doi.org/10.1002/ajmg.a.61338
https://doi.org/10.1002/ajmg.a.61338
Publikováno v:
Nature Biomedical Engineering. 1:714-723
Rare DNA-sequence variants hold important clinical and biological information, but existing detection techniques are expensive, complex, allele-specific, or don’t allow for significant multiplexing. Here, we report a temperature-robust polymerase-c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b8479ca65a49e4f052fa0d87264e376
https://doi.org/10.1038/s41551-017-0126-5
https://doi.org/10.1038/s41551-017-0126-5
Publikováno v:
Nature biomedical engineering. 1(12)
Rare DNA-sequence variants hold important clinical and biological information, but existing detection techniques are expensive, complex, allele-specific, or don’t allow for significant multiplexing. Here, we report a temperature-robust polymerase-c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad81316aca2a4cb9c724c8f30694f6e9
https://pubmed.ncbi.nlm.nih.gov/29805844
https://pubmed.ncbi.nlm.nih.gov/29805844
Publikováno v:
Nucleic Acids Research
For many analytic and biomedical applications, the presence of an analyte above or below a critical concentration is more informative for decision making than the actual concentration value. Straightforward analog-to-digital signal conversion does no
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::769dcdc96e356ffccf549df94f6b4a20
http://europepmc.org/articles/PMC7293012
http://europepmc.org/articles/PMC7293012
Autor:
Irena Pekker, David Zhang, Emily R Evans, Celine Ngouenet, Alessandro Pinto, Joseph M. Beechem, Lucia R. Wu, Juexiao Wang, John Z. Fang, Richard Kemble Boykin, Philippa J. Webster
Publikováno v:
Nature methods
In silico designed nucleic acid probes and primers often fail to achieve favorable specificity and sensitivity tradeoffs on the first try, and iterative empirical sequence-based optimization is needed, particularly in multiplexed assays. Here, we pre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4efa77b42d57e545f16469c1ea04267f
https://doi.org/10.1038/nmeth.3626
https://doi.org/10.1038/nmeth.3626
Rare DNA sequence variants hold important clinical and biological information, but are chal-lenging for existing methods (e.g. PCR, NGS) to profile in an inexpensive, multiplexed, simple-to-implement, and sequence-general way. Here, we present Blocke
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f150eb92bc5fdd56a2a6445ebf7ff118
https://doi.org/10.1101/136465
https://doi.org/10.1101/136465
