There are many current and evolving tools to assist clinicians in their daily work of phenotyping. In medicine, the term 'phenotype' is usually taken to mean some deviation from normal morphology, physiology and behaviour. It is ascertained via history, examination and investigations, and a primary aim is diagnosis. Therefore, doctors are, by necessity, expert 'phenotypers'. There is an inherent and partially realised power in phenotypic information that when harnessed can improve patient care. Furthermore, phenotyping developments are increasingly important in an era of rapid advances in genomic technology. Fortunately, there is an expanding network of phenotyping tools that are poised for clinical translation. These tools will preferentially be implemented to mirror clinical workflows and to integrate with advances in genomic and information-sharing technologies. This will synergise with and augment the clinical acumen of medical practitioners. We outline key enablers of the ascertainment, integration and interrogation of clinical phenotype by using genetic diseases, particularly rare ones, as a theme. Successes from the test bed or rare diseases will support approaches to common disease.

High sensitivity and precision spectroscopy in the far infrared AIP Conf.The laser excitation spectrum of tungsten methylidyne, WCH, has been recorded in the 12 000-15 400 cm Ϫ1 region. A total of 14 vibronic bands of WCH and 16 bands of WCD have been observed in this region. Rotational analysis shows that the ground state is X3/2( 2 ⌬), with the substitution structure r 0 ͑WwC͒ϭ1.7366 5 Å and r 0 ͑C-H͒ϭ1.076 5 Å. The excited vibronic levels have been assigned, on the basis of their WCH/WCD isotope shifts and their wavelength resolved fluorescence patterns, to three electronic states, Ã3/2( 2 ⌬), B1/2( 2 ⌸), and C 5/2( 2 ⌽), at 12 090, 13 392, and 14 110 cm Ϫ1 , respectively. The wavelength resolved fluorescence spectra have also established the low-lying vibrational levels of the ground state. The ground state bending fundamental lies at 660 cm Ϫ1 , while the W-C stretching frequency is 1006 cm Ϫ1 ; the corresponding frequencies in WCD are 501 cm Ϫ1 and 953 cm Ϫ1 , respectively. No evidence for the C-H stretching frequency has been found. Emission has also been observed to a low-lying electronic state, 813 cm Ϫ1 above the X3/2 state. The pattern of rotationally resolved emission to this state clearly indicates that it is a 4 ⌺ 1/2 state. Its bending frequency is 612 cm Ϫ1 , and its W-C stretching frequency is 971 cm Ϫ1 , indicating a slightly longer bond length than in the X3/2 state. High resolution cw laser spectra of the ͑0,0͒ bands of the two lowest excited electronic states ͓Ã3/2( 2 ⌬) and B1/2( 2 ⌸)͔ reveal a small splitting of the four principal tungsten isotopes ͑ 182 W, 183 W, 184 W, and 186 W͒ which serves to confirm the presence of tungsten in the carrier. Hyperfine splitting associated with the 183 W nucleus (Iϭ1/2) has been observed for the ͑0,0͒ band of the Ã3/2ϪX3/2 system, allowing the electron configuration of the ground state to be elucidated.

Three-dimensional (3D) facial analysis is ideal for high-resolution, nonionizing, noninvasive objective, high-throughput phenotypic, and phenomic studies. It is a natural complement to (epi)genetic technologies to facilitate advances in the understanding of rare and common diseases. The face is uniquely reflective of the primordial tissues, and there is evidence supporting the application of 3D facial analysis to the investigation of variation and disease including studies showing that the face can reflect systemic health, provides diagnostic clues to disorders, and that facial variation reflects biological pathways. In addition, facial variation has been related to evolutionary factors. The purpose of this review is to look backward to suggest that knowledge of human evolution supports, and may instruct, the application and interpretation of studies of facial morphology for documentation of human variation and investigation of its relationships with health and disease. Furthermore, in the context of advances of deep phenotyping and data integration, to look forward to suggest approaches to scalable implementation of facial analysis, and to suggest avenues for future research and clinical application of this technology.

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