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SNPSTRs: empirically derived, rapidly typed, autosomal haplotypes for inference of population history and mutational processes.

ABSTRACT: Each independently evolving segment of the genomes of a sexually reproducing organism has a separate history reflecting part of the evolutionary history of that organism. Uniparentally or clonally inherited DNA segments such as the mitochondrial and chloroplast genomes and the nonrecombining portion of the Y chromosome have provided, to date, most of the known data regarding compound haplotypic variation within and among populations. These comparatively small segments include numerous polymorphic sites and undergo little or no recombination. Recombining autosomes, however, comprise the major repository of genetic variation. Technical challenges and recombination have limited large-scale application of autosomal haplotypes. We have overcome this barrier through development of a general approach to the assessment of short autosomal DNA segments. Each such segment includes one or more single nucleotide polymorphisms (SNPs) and exactly one short tandem repeat (STR) locus. With dramatically different mutation rates, these two types of genetic markers provide complementary evolutionary information. We call the combination of a SNP and a STR polymorphism a SNPSTR, and have developed a simple, rapid method for empirically determining gametic phase for double and triple heterozygotes. Here, we illustrate the approach with two SNPSTR systems. Although even one system provides insight into population history, the power of the approach lies in combining results from multiple SNPSTR systems.

SUBMITTER: Mountain JL

PROVIDER: S-EPMC187554 | biostudies-literature | 2002 Nov

REPOSITORIES: biostudies-literature

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SNPSTRs: empirically derived, rapidly typed, autosomal haplotypes for inference of population history and mutational processes.

Mountain Joanna L JL Knight Alec A Jobin Matthew M Gignoux Christopher C Miller Adam A Lin Alice A AA Underhill Peter A PA

Genome research 20021101 11

Each independently evolving segment of the genomes of a sexually reproducing organism has a separate history reflecting part of the evolutionary history of that organism. Uniparentally or clonally inherited DNA segments such as the mitochondrial and chloroplast genomes and the nonrecombining portion of the Y chromosome have provided, to date, most of the known data regarding compound haplotypic variation within and among populations. These comparatively small segments include numerous polymorphi ...[more]

PMID: 12421764

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Project description:BACKGROUND:The clinical reasoning process, which requires biomedical knowledge, knowledge about problem-solving strategies, and knowledge about reasons for diagnostic procedures, is a key element of physicians' daily practice but difficult to assess. The aim of this study was to empirically develop a Clinical Reasoning Indicators-History Taking-Scale (CRI-HT-S) and to assess the clinical reasoning ability of advanced medical students during a simulation involving history taking. METHODS:The Clinical Reasoning Indictors-History Taking-Scale (CRI-HT-S) including a 5-point Likert scale for assessment was designed from clinical reasoning indicators identified in a qualitative study in 2017. To assess indicators of clinical reasoning ability, 65 advanced medical students (semester 10, n =?25 versus final year, n =?40) from three medical schools participated in a 360-degree competence assessment in the role of beginning residents during a simulated first workday in hospital. This assessment included a consultation hour with five simulated patients which was videotaped. Videos of 325 patient consultations were assessed using the CRI-HT-S. A factor analysis was conducted and the students' results were compared according to their advancement in undergraduate medical training. RESULTS:The clinical reasoning indicators of the CRI-HT-S loaded on three factors relevant for clinical reasoning: 1) focusing questions, 2) creating context, and 3) securing information. Students reached significantly different scores (p <?.001) for the three factors (factor 1: 4.07?±?.47, factor 2: 3.72?±?.43, factor 3: 2.79?±?.83). Students in semester 10 reached significantly lower scores for factor 3 than students in their final year (p <?.05). CONCLUSIONS:The newly developed CRI-HT-S worked well for quantitative assessment of clinical reasoning indicators during history taking. Its three-factored structure helped to explore different aspects of clinical reasoning. Whether the CRI-HT-S has the potential to be used as a scale in objective structured clinical examinations (OCSEs) or in workplace-based assessments of clinical reasoning has to be investigated in further studies with larger student cohorts.

Dataset Information

SNPSTRs: empirically derived, rapidly typed, autosomal haplotypes for inference of population history and mutational processes.

Publications

SNPSTRs: empirically derived, rapidly typed, autosomal haplotypes for inference of population history and mutational processes.

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