Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Dana Goos"'
Autor:
Charles M Strom, Steven Rivera, Christopher Elzinga, Taraneh Angeloni, Sun Hee Rosenthal, Dana Goos-Root, Martin Siaw, Jamie Platt, Cory Braastadt, Linda Cheng, David Ross, Weimin Sun
Publikováno v:
PLoS ONE, Vol 10, Iss 8, p e0136419 (2015)
The objective of this study was to design and validate a next-generation sequencing assay (NGS) to detect BRCA1 and BRCA2 mutations. We developed an assay using random shearing of genomic DNA followed by RNA bait tile hybridization and NGS sequencing
Externí odkaz:
https://doaj.org/article/eee56ee4e804493faaa7902b03f2089f
Autor:
Feras M. Hantash, Joy B Redman, Anja Kammesheidt, Dana Goos, Charles M. Strom, Matthew J. McGinniss, Weimin Sun
Publikováno v:
The Journal of Molecular Diagnostics. 9:556-560
Recently, DNA rearrangements in the cystic fibrosis transmembrane conductance regulator (CFTR) gene have been described with increasing frequency. These large DNA rearrangements are not detected using conventional methods of DNA sequencing, single-st
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95a41baecf93fed670e09cddc454d03b
https://doi.org/10.2353/jmoldx.2007.060141
https://doi.org/10.2353/jmoldx.2007.060141
Autor:
Feras M. Hantash, Michael Jarvis, Charles M. Strom, Franklin Quan, Dana Goos, David Tsao, Weimin Sun, Arlene Buller-Burckle, Mei Peng
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 12(3)
Purpose: Fragile X syndrome is caused by expansion and subsequent methylation of a CGG trinucleotide repeat in the FMR1 5′-untranslated region. Southern blot analysis is typically required to determine expansion size for triplet repeat lengths >200
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26fc7815cc55c73fde950f7a0be7a0ce
https://pubmed.ncbi.nlm.nih.gov/20168238
https://pubmed.ncbi.nlm.nih.gov/20168238
Autor:
Beryl Crossley, Franklin Quan, Ke Zhang, Weimin Sun, Arlene Buller-Burkle, Michael Jarvis, Dana Goos, Mei Peng, Charles M. Strom
Publikováno v:
Genetics in Medicine. :1
We sought to determine the genotype frequencies for cytochrome p450 enzyme 2C19 variant alleles both in the US pan-ethnic population and various US ethnic groups and to establish the frequency of clinically actionable genotypes.Analytical results wer
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34f5d7279bcc7df15d98007cfaa5770b
https://doi.org/10.1097/gim.0b013e3182329870
https://doi.org/10.1097/gim.0b013e3182329870