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Related Concept Videos

Taxonomy01:31

Taxonomy

Taxonomy is the science of defining and naming groups of biological organisms based on shared characteristics. It uses a hierarchy of increasingly inclusive categories with Latin names. The smallest units of taxonomy, species and genus, are used to assign a formal, taxonomic name to each species in a system. This classification system, referred to as binomial nomenclature, was formalized by Carolus Linnaeus in the 18th century.
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Methods of Classification and Identification

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Applications of Molecular Taxonomy

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Microbial Morphologies

Bacterial and archaeal cells exhibit remarkable diversity in shape and structure, critical in their adaptability and functionality. Among bacteria, the most commonly observed shapes include cocci and bacilli. Cocci are spherical and may exist singly or in groupings such as pairs (diplococci), chains (streptococci), clusters (staphylococci), or tetrads. Bacilli, in contrast, are rod-shaped and can also occur as single cells, in pairs, or chains, depending on their environmental and genetic...
Microbial Classification System01:24

Microbial Classification System

Classification is the process of organizing organisms into hierarchically inclusive groups based on their phenotypic similarities or evolutionary relationships. A species comprises one or more strains, and closely related species are grouped into genera. Genera are further classified into families, families into orders, orders into classes, and so forth, up to the domain level, which is the broadest taxonomic rank derived from a combination of phenotypic and genotypic data.The nomenclature of...

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A Concoction Pipeline for Generating Molecular Operational Taxonomic Units (MOTUs) Among Riparian and Aquatic Beetles
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Taxonomizing, sizing, and overcoming the incidentalome.

Isaac S Kohane1, Michael Hsing, Sek Won Kong

  • 1Children's Hospital Informatics Program, Children's Hospital, Boston, Massachusetts, USA. isaac_kohane@harvard.edu

Genetics in Medicine : Official Journal of the American College of Medical Genetics
|February 11, 2012
PubMed
Summary

False-positive incidental findings from whole-genome sequencing are a significant clinical concern. Current methods generate hundreds of false positives per individual, impacting interpretation capabilities.

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Area of Science:

  • Genomics
  • Clinical Genetics
  • Bioinformatics

Background:

  • Whole-genome sequencing (WGS) is increasingly available clinically.
  • The rise in WGS use is expected to increase incidental findings.
  • False-positive incidental findings pose a particular clinical challenge.

Purpose of the Study:

  • To estimate the prevalence of false-positive incidental findings in clinical whole-genome sequencing.
  • To categorize the primary sources contributing to these false positives.

Main Methods:

  • Analysis of whole-genome sequences from nine individuals.
  • Utilized comprehensive public annotation databases for data scanning.
  • Evaluated estimates against known sources of false-positive annotation errors.

Main Results:

  • Identified four main sources of false-positive incidental findings: erroneous annotations, sequencing errors, incorrect penetrance estimates, and multiple hypothesis testing.
  • Erroneous annotations and sequencing errors are expected to be resolved in the near future.
  • Current methodologies conservatively yield hundreds of false-positive incidental findings per individual.

Conclusions:

  • The high rate of false positives challenges the delivery of clinical-grade whole-genome interpretation.
  • Addressing this requires enhanced population studies.
  • Clinical decision-support systems need retooling to manage false-positive burdens.