Whole exome sequencing (WES) is increasingly being used for diagnosis without adequate information on predictive characteristics of reportable variants typically found on any given individual and correlation with clinical phenotype. In this study, we performed WES on 89 deceased individuals (mean age at...
Insogna (2015) An unusual case of rickets and how whole exome sequencing helped to correct a diagnosis. AACE Clinical Case Reports In-Press. doi: http://dx.doi.org/10.4158/EP15944.CRdoi:10.4158/EP15944.CRPatricia R. PeterCatherine A. Brownstein...
In this example of a CNV analysis using whole-exome sequencing data, it is already apparent that there more CNVs called than could possibly be clinically relevant (Figure 1). This is where global population frequency databases come in as a tertiary analysis tool to scrub out common variants. ...
The research team used whole exome genome sequencing to study three generations of naturally short sleepers in one of these families and found a rare mutation of a gene that was being passed down in the family's DNA. People who have these specific gene mutations are called "efficient sleepers...
Participants in the 100,000 Genomes Project (100kGP) could consent to receive additional finding (AF) results, individual variants relating to genes associated with susceptibility to cancer and familial hypercholesterolemia (FH). In the study reported here, qualitative interviews were used to explore ...
Unbiased whole-genome technologies might uncover novel epimutations and molecular features in gastric cancer, leading to a better understanding of disease heterogeneity Abstract Gastric cancer is a deadly malignancy afflicting close to a million people worldwide. Patient survival is poor and largely due...
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Driven by competition, automation, and technology, the genomics community has far exceeded its ambition to sequence the human genome by 2005. By analyzing ... Brent,R M. - 《Genome Research》 被引量: 269发表: 2005年 Genomics really gets personal: How exome and whole genome sequencing challen...
(participant 7) I have become more involved in analyzing variants from whole-genome/exome sequencing in a clinical setting. (participant 8) I expect to spend a portion of my time in my new job working with patients and research subjects who are pursuing [WGS]. (participant 12) I ...
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