“…Based on recent findings in the literature and our clinical experience, we propose a multidisciplinary approach involving specialists in different clinical fields (i.e., cardiologists, surgeons, ophthalmologists, orthopedics, pneumologists, neurologists, endocrinologists, geneticists, and psychologists) to comprehensively characterize, treat, and manage MFS patients with a personalized medicine approach.…”
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“…One of the main necessities for population geneticists is the availability of sensitive statistical tools that enable to accept or reject the standard Wright–Fisher model of neutral evolution. …”
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“…The identification of quantitative trait loci (QTLs) of small effect size that underlie complex traits poses a particular challenge for geneticists due to the large sample sizes and large numbers of genetic markers required for genomewide association scans. …”
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“…Population geneticists often study small numbers of carefully chosen loci, but it has become possible to obtain orders of magnitude for more data from overlaps of genome sequences. …”
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“…The core problem is essentially that of classification of the relationships among phenotypes of mutant strains into biologically informative “rules” of gene interaction. Geneticists have determined such classifications based on insights from biological examples, but it is not clear that there is a systematic, unsupervised way to extract this information. …”
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“…RESULTS: Twenty three clinicians, including genetic counselors, clinical geneticists, medical oncologists, breast surgeons and gynaecologic oncologists, participated in six focus groups in 2007. …”
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“…The aim of this work is to provide human molecular geneticists with a tool to evaluate the best UHTS methodology for efficiently detecting DNA changes, from common SNPs to rare mutations. …”
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“…A comprehensive approach is therefore recommended to identify and describe unclassified variants in order to offer essential data for basic and clinical geneticists. ©2010 Wiley-Liss, Inc.…”
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“…Systems mapping should enable geneticists to shed light on the genetic complexity of any biological system in plants and other organisms and predict its physiological and pathological states.…”
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“…Detecting and interpreting certain system-level characteristics associated with human population genetic differences is a challenge for human geneticists. In this study, we conducted a population genetic study using the HapMap genotype data to identify certain special Gene Ontology (GO) categories associated with high/low genetic difference among 11 Hapmap populations. …”
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“…The etiopathology of vestibular disorders has been updated by geneticists (e.g., the description of the COCH gene mutations), the detection of structural abnormalities (e.g., dehiscence syndromes) and related disorders (e.g. migraine-associated vertigo). …”
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“…They are established resources for clinical geneticists, neurologists, and researchers in need of comprehensive, referenced genetic, epidemiologic, clinical, neuropathological, and/or cell biological information of specific gene mutations in these diseases. …”
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“…Interesting cases of human quadrupedalism described by Tan and Colleagues (2005–2012) have attracted the attention of geneticists, neurologists, and anthropologists. Since his first publications in 2005, the main attention has focused on the genetic aspects of disorders that lead to quadrupedalism within an evolutionary framework. …”
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“…Modern DNA sequencing technologies enable geneticists to rapidly identify genetic variation among many human genomes. …”
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“…The high prevalence of AB blood type bringsabout a lot of presuppositions for geneticists, epidemiologists,hematologists and all majors in basic sciences.…”
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“…Contributing to DECIPHER is an international consortium of >200 academic clinical centres of genetic medicine and ≥1600 clinical geneticists and diagnostic laboratory scientists. Information integrated from a variety of bioinformatics resources, coupled with visualization tools, provides a comprehensive set of tools to identify other patients with similar genotype–phenotype characteristics and highlights potentially pathogenic genes. …”
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“…Natural resource law offers insights into problems medical geneticists can expect after this decision and suggests possible solutions. …”
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“…Our data provides a very valuable resource for both basic mitochondrial researchers as well as clinical geneticists working to identify novel disease genes on the basis of exome sequence data.…”
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“…Consistent with this approach, testing is delivered by health care professionals who are not medical geneticists, and where results represent risks, as opposed to clinical diagnosis of disease, to be interpreted alongside the entirety of a patient’s health and medical data. …”
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“…However, identifying one variation among hundreds or thousands of others is still a complex task for biologists, geneticists and clinicians. Results. We have developed VaRank, a command-line tool for the ranking of genetic variants detected by high-throughput sequencing. …”
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