The effects of differences in trophectoderm biopsy techniques and the number of cells collected for biopsy on next‐generation sequencing results
Sign Up to like & getrecommendations! Published in 2022 at "Reproductive Medicine and Biology"
DOI: 10.1002/rmb2.12463
Abstract: To examine how differences in trophectoderm biopsy techniques affect the frequency of mosaic embryos and sequencing results. read more here.
Keywords: trophectoderm biopsy; effects differences; differences trophectoderm; biopsy techniques ... See more keywords
Parents’ perceptions of personal utility of exome sequencing results
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DOI: 10.1038/s41436-019-0730-8
Abstract: Purpose Clinical genome or exome sequencing (GS/ES) provides a diagnosis for many individuals with suspected genetic disorders, but also yields negative or uncertain results for the majority. This study examines how parents of a child… read more here.
Keywords: sequencing results; exome sequencing; utility; genetics ... See more keywords
Are next-generation sequencing results knocking on Heaven’s door for transplantation planning in chronic myelomonocytic leukemia?
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DOI: 10.3324/haematol.2019.240853
Abstract: Department of Hematology, Hospital Universitario y Politécnico La Fe, Valencia; Instituto de Investigación Sanitaria La Fe, Valencia Department of Medicine, University of Valencia, Valencia; Centro de Investigación Biomédica en Red de Cáncer, CIBERONC, Instituto de… read more here.
Keywords: sequencing results; results knocking; valencia; knocking heaven ... See more keywords
OMIXCARE: OMICS technologies solved about 33% of the patients with heterogeneous rare neuro-developmental disorders and negative exome sequencing results and identified 13% additional candidate variants
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DOI: 10.3389/fcell.2022.1021785
Abstract: Purpose: Patients with rare or ultra-rare genetic diseases, which affect 350 million people worldwide, may experience a diagnostic odyssey. High-throughput sequencing leads to an etiological diagnosis in up to 50% of individuals with heterogeneous neurodevelopmental… read more here.
Keywords: omics technologies; sequencing results; negative exome; disorders negative ... See more keywords
Repetitive Sampling and Control Threshold Improve 16S rRNA Gene Sequencing Results From Produced Waters Associated With Hydraulically Fractured Shale
Sign Up to like & getrecommendations! Published in 2020 at "Frontiers in Microbiology"
DOI: 10.3389/fmicb.2020.536978
Abstract: Sequencing microbial DNA from deep subsurface environments is complicated by a number of issues ranging from contamination to non-reproducible results. Many samples obtained from these environments – which are of great interest due to the… read more here.
Keywords: sequencing results; biomass; 16s rrna; rrna gene ... See more keywords
Genomic Sequencing Results Disclosure in Diverse and Medically Underserved Populations: Themes, Challenges, and Strategies from the CSER Consortium
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DOI: 10.3390/jpm11030202
Abstract: Genomic sequencing results need to be effectively communicated across all populations and practice settings. Projects in the Clinical Sequencing Evidence-Generating Research (CSER) consortium enroll diverse racial/ethnic and medically underserved participants across various clinical contexts. This… read more here.
Keywords: genomic sequencing; sequencing results; results disclosure; challenges strategies ... See more keywords