“…CRISPR/Cas (Clustered regularly interspaced short palindromic repeat sequences/CRISPR-associated protein) is the newest tool in the geneticist’s toolbox, allowing researchers to edit a genome with unprecedented ease, accuracy, and high-throughput. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…The objective of this study is to report a new Moroccan case of SCA7 and to illustrate the role of the geneticist in the diagnosis, management and development of genetic counseling of SCA7 disease.…”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…This case report describes the clinical diagnosis of my late-onset hypertrophic cardiomyopathy, which was brought upon by symptoms of chest pain and palpitations that started approximately two years ago and had mostly gone unnoticed during this period. As a geneticist, I decided to undergo genetic test upon diagnosis. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…She was referred to a geneticist and counseled on the impact of her diagnosis and the absence of uterus and ovaries on fertility. …”
Enlace del recurso
Enlace del recurso

“…Interviewees are leading physicists including successive heads of ATLAS, a top historian of science, a highly original economic strategist, a Nobel Prize-winning geneticist and President of the Royal Society in London, and experts in many other fields. …”
Enlace del recurso
Enlace del recurso

“…To achieve such vision requires substantial changes in billing, reimbursement, and reporting as well as the development of new systemic and technical architectures within the healthcare system. Clinical geneticist roles will evolve into managing precision health frameworks and genetic counselors will serve crucial roles in both leading and supporting precision medicine through the implementation and maintenance of precision medicine architectures. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Clinically, the infant displayed features consistent with Alagille syndrome, including unusual facial appearance, butterfly vertebrae, cardiovascular defects, and cholestasis. The geneticist noted that the mother of the patient also exhibited similar features. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Patients presenting with the oral profile of ERS should receive a prompt referral to a nephrologist and a geneticist. They should receive long-term management from a multidisciplinary medical and dental team.…”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…The patient was managed symptomatically for ADHD until recently when the topic of a possible genetic condition was reintroduced to the family, who were agreeable to a referral to a medical geneticist and repeat genetic testing. Repeat testing, but now with whole-exome sequence (WES) analysis, revealed a pathogenic variant of the USP7 gene, prompting the diagnosis of Hao-Fountain syndrome. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Software programs for calculating ancestry estimates have become essential tools in the geneticist's analytic arsenal. RESULTS: Here we describe four enhancements to ADMIXTURE, a high-performance tool for estimating individual ancestries and population allele frequencies from SNP (single nucleotide polymorphism) data. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…A breast surgeon has to be aware of this rare condition when treating a patient with breast manifestations of Cowden syndrome and has to refer the patient to a clinical geneticist for further evaluation. Sequencing of the PTEN gene showed the Asp24Gly mutation. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…The parents were counselled and they declined further assessment of the baby by a hand surgeon and a clinical geneticist. At 3 years of age, the baby had normal development and “is using her hand even without fingers,” according to the mother. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Since no chromosomal evaluation was performed, a chromosomal microarray testing was performed. Review of geneticist report indicated that patient carries a deletion of at least 2.26 Mb within cytogenetic band Xq22.1 to Xq22.2 which is known to contain 39 genes. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Therefore, it was necessary to refer the patient to a geneticist, who ruled out any syndromic alteration. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Close interaction between the forensic scientist, pathologist, cardiologist, pediatric cardiologist and geneticist has allowed a progressive increase of genetic yield in recent years, identifying the pathogenic genetic alteration. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…These scenarios may seem far-fetched, but pioneering geneticist George Church and science writer Ed Regis show that synthetic biology is bringing us ever closer to making such visions a reality. …”
Enlace del recurso

“…Mather, Sun Microsystems cofounder Bill Joy, Wired founding editor Kevin Kelly, psychologist Alison Gopnik, Genome author Matt Ridley, Harvard geneticist George Church, Why Does the World Exist? …”
Enlace del recurso

“…The discrete clinical manifestations and prompt evaluation by a geneticist were crucial in establishing a diagnosis, enabling an early intervention by a multidisciplinary team. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…BACKGROUND: How to efficiently integrate the daily practice of molecular biologists, geneticists, and clinicians with the emerging computational strategies from systems biology is still much of an open question. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Thanks to its hierarchical nature, our method is shown to provide a compact view of both pairwise and multilocus linkage disequilibrium spatial structures for the geneticist. Besides, a multilocus linkage disequilibrium measure has been designed to evaluate linkage disequilibrium in hierarchy clusters. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso