Considerations for whole exome sequencing unique to prenatal care
Sign Up to like & getrecommendations! Published in 2019 at "Human Genetics"
DOI: 10.1007/s00439-019-02085-7
Abstract: Whole exome sequencing (WES) is increasingly being used in the prenatal setting. The emerging data support the clinical utility of prenatal WES based on its diagnostic yield, which can be as high as 80% for… read more here.
Keywords: exome sequencing; considerations whole; wes; whole exome ... See more keywords
The Importance of Sexual Orientation in the Association Between Social Cohesion and Client Condom Coercion Among Women Who Exchange Sex in Baltimore, Maryland
Sign Up to like & getrecommendations! Published in 2022 at "AIDS and Behavior"
DOI: 10.1007/s10461-022-03599-4
Abstract: Among women who exchange sex (WES), social cohesion is associated with multi-level HIV-risk reduction factors, and client condom coercion (CCC) is associated with increased HIV-risk. Sexual minority WES (SM-WES) face exacerbated HIV-risk, yet relevant research… read more here.
Keywords: wes; sexual orientation; social cohesion; cohesion ... See more keywords
Systematic dissection of biases in whole-exome and whole-genome sequencing reveals major determinants of coding sequence coverage
Sign Up to like & getrecommendations! Published in 2020 at "Scientific Reports"
DOI: 10.1038/s41598-020-59026-y
Abstract: Advantages and diagnostic effectiveness of the two most widely used resequencing approaches, whole exome (WES) and whole genome (WGS) sequencing, are often debated. WES dominated large-scale resequencing projects because of lower cost and easier data… read more here.
Keywords: wes; whole genome; coverage; whole exome ... See more keywords
253 Findings of the Workers’ exposure survey (WES) on cancer risk factors in six European countries
Sign Up to like & getrecommendations! Published in 2024 at "Annals of Work Exposures and Health"
DOI: 10.1093/annweh/wxae035.096
Abstract: EU-OSHA has implemented the largest European survey to date to estimate worker’s exposure to known cancer risk factors. WES is based on the Australian workplace exposures study (AWES) and has been thoroughly adapted to the… read more here.
Keywords: cancer risk; cancer; survey; risk factors ... See more keywords
O-271 Clinical application of Whole-Exome Sequencing (WES)-based Preimplantation Genetic Testing (PGT) for the assessment of embryo genetics and viability
Sign Up to like & getrecommendations! Published in 2025 at "Human Reproduction"
DOI: 10.1093/humrep/deaf097.271
Abstract: Can whole exome sequencing (WES) represent a reliable approach for PGT of monogenic disorders, aneuploidy and structural rearrangements, providing comprehensive genomic information from embryos? WES-based PGT (PGT-WES) has demonstrated high accuracy in detecting inherited and… read more here.
Keywords: pgt; embryo genetics; wes based; wes ... See more keywords
High prevalence of copy number variations in the Japanese participants with suspected MODY
Sign Up to like & getrecommendations! Published in 2024 at "Clinical Genetics"
DOI: 10.1111/cge.14544
Abstract: Maturity‐Onset Diabetes of the Young (MODY) is a diabetes mellitus subtype caused by a single gene. The detection rate of the responsible gene is 27% in the United Kingdom, indicating that the causative gene remains… read more here.
Keywords: japanese participants; wes; number variations; mody ... See more keywords
Comparison between whole exome sequencing (WES) and single nucleotide polymorphism (SNP)-based tumor mutation burden analysis.
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Clinical Oncology"
DOI: 10.1200/jco.2019.37.15_suppl.2634
Abstract: 2634 Background: Immune checkpoint inhibitors (ICI) block proteins which enable cancer cells to evade the immune system. Recent studies have shown that the higher the tumor mutation burden (TMB) the greater the likelihood of response… read more here.
Keywords: analysis; sbtmb; tumor; snp based ... See more keywords
Genetic Testing for Malformations of Cortical Development
Sign Up to like & getrecommendations! Published in 2022 at "Neurology: Genetics"
DOI: 10.1212/nxg.0000000000200032
Abstract: Background and Objectives Malformations of cortical development (MCD), though individually rare, constitute a significant burden of disease. The diagnostic yield of next-generation sequencing (NGS) in these patients varies across studies and methods, and novel genes… read more here.
Keywords: malformations cortical; wes; cortical development; diagnostic yield ... See more keywords
[Whole exome sequencing analysis and prenatal diagnosis in children with neurodevelopmental disorders].
Sign Up to like & getrecommendations! Published in 2023 at "Zhonghua yu fang yi xue za zhi [Chinese journal of preventive medicine]"
DOI: 10.3760/cma.j.cn112150-20220606-00577
Abstract: To explore the application value of whole exome sequencing (WES) in the diagnosis of prenatal and postnatal neurodevelopmental disorders (NDDs). A total of 70 patients diagnosed with NDDs who underwent WES at the Medical Genetics… read more here.
Keywords: neurodevelopmental disorders; diagnosis; whole exome; analysis ... See more keywords