Facing the challenges to shorten the diagnostic odyssey: first Whole Genome Sequencing experience of a Colombian cohort with suspected rare diseases.

Exome and genome sequencing (ES/GS) are routinely used for the diagnosis of genetic diseases in developed countries. However, their implementation is limited in countries from Latin America. We aimed to describe the results of GS in patients with suspected rare genetic diseases in Colombia.

Multicenter Comparison of Nucleic Acid Amplification Tests for the Diagnosis of Rectal and Oropharyngeal Chlamydia trachomatis and Neisseria gonorrhoeae Infections.

Research using nucleic acid amplification tests (NAATs) have repeatedly found rectal and oropharyngeal infections with Chlamydia trachomatis and Neisseria gonorrhoeae to be common and potentially more difficult to treat than genital infections. Unfortunately, public health and patient care efforts have been hampered by the lack of FDA-cleared NAATs with claims for anorectal or oropharyngeal samples. At the time of the initiation of this study, no commercially available assays had these claims.

Disparities and Temporal Trends in COVID-19 Exposures and Mitigating Behaviors Among Black and Hispanic Adults in an Urban Setting.

Importance: COVID-19, caused by SARS-CoV-2 virus, has disproportionately affected Black and Hispanic communities in the US, which can be attributed to social factors including inconsistent public health messaging and suboptimal adoption of prevention efforts.

Objectives: To identify behaviors and evaluate trends in COVID-19-mitigating practices in a predominantly Black and Hispanic population, to identify differences in practices by self-reported ethnicity, and to evaluate whether federal emergency financial assistance was associated with SARS-CoV-2 acquisition.

Design, Setting, And Participants: This survey study was conducted by telephone from July 1 through August 30, 2020, on a random sample of adults who underwent SARS-CoV-2 testing at a safety-net health care system in Chicago during the surge in COVID-19 cases in the spring of 2020.

Ancestry analysis using autosomal SNPs in northern South America, reveals interpretation differences between an AIM panel and an identification panel.

Current human populations are studied to elucidate their ancestry composition and to obtain reference values for an array of genetic markers for forensic practice. This study compared the 79 ancestry informative markers (AIMs) panel with the SNPforID 52plex set used in forensic identification, using samples belonging to Continental Caribbean populations from Colombia with a high percentage of locals self-determined as Native American descendants. The results show a bias in the individual estimation made with the identification markers, which disregards the Native American ancestry component and overestimates the African ancestry component.