A computer-assisted method for pathogenicity assessment and genetic reporting of variants stored in the Australian Inherited Retinal Disease Register.

Abstract:

:The assignment of pathogenicity to variants suspected of causing an inherited retinal disease and the subsequent creation of molecular genetic reports sent to clinical geneticists and ophthalmologists has traditionally been time-consuming and subject to error and ambiguity. The purpose of this paper is to describe a computer-assisted method we have developed for (1) assessment of the predicted pathogenicity of genetic variants identified in patients diagnosed with an inherited retinal disease and (2) the incorporation of these results into the Australian Inherited Retinal Disease Register and DNA Bank's databases, for the production of molecular genetics reports. This method has significantly accelerated the assessment of variant pathogenicity prediction and subsequent patient report generation for the Australian Inherited Retinal Disease Register and DNA Bank, and has reduced the potential for human error. The principles described in this paper may be applied in any situation where genetic variants and patient information are stored in a well-organised database.

authors

Huynh E,De Roach J,McLaren T,Thompson J,Montgomery H,Kap C,Hoffmann L,Lamey T

doi

10.1007/s13246-015-0420-z

subject

Has Abstract

pub_date

2016-03-01 00:00:00

pages

239-45

issue

1

eissn

0158-9938

issn

1879-5447

pii

10.1007/s13246-015-0420-z

journal_volume

39

pub_type

杂志文章
  • Development of a biological signal-based evaluator for robot-assisted upper-limb rehabilitation: a pilot study.

    abstract::Bio-signal based assessment for upper-limb functions is an attractive technology for rehabilitation. In this work, an upper-limb function evaluator is developed based on biological signals, which could be used for selecting different robotic training protocols. Interaction force (IF) and participation level (PL, proce...

    journal_title:Australasian physical & engineering sciences in medicine

    pub_type: 杂志文章

    doi:10.1007/s13246-019-00783-0

    authors: Sheng B,Tang L,Moosman OM,Deng C,Xie S,Zhang Y

    更新日期:2019-09-01 00:00:00

  • The impact of inhomogeneous tissue anisotropy on potential distribution within head model.

    abstract::This paper investigates the influence of inhomogeneous head tissue conductivity on EEGs. A head model with inhomogeneity of radial and tangential conductivity is built up. Based on this model the EEG signals are calculated using the finite elements method. The results show that the inhomogeneous radial and tangential ...

    journal_title:Australasian physical & engineering sciences in medicine

    pub_type: 杂志文章

    doi:10.1007/BF03178780

    authors: Wen P

    更新日期:2003-09-01 00:00:00

  • Diagnostic x-ray spectra simulation, verification and application to the clinical environment.

    abstract::A set of computer programs to simulate diagnostic x-ray spectra has been developed according to the method of Birch and Marshall, with good agreement to published HPA data. These programs have been extended to simulate spectra generated with capacitor discharge x-ray units. The application of these programs has proved...

    journal_title:Australasian physical & engineering sciences in medicine

    pub_type: 杂志文章

    doi:

    authors: McLean D

    更新日期:1989-09-01 00:00:00

  • Evaluation of useful neutron flux for accelerator boron neutron capture therapy using the 7Li(p,n) reaction.

    abstract::Accelerator neutron sources for epithermal neutron capture therapy utilising the 7Li(p,n) nuclear reaction are proposed to operate in the range of 1.88 to 2.5 MeV proton energy. Operation with proton energies closer to the reaction threshold decreases neutron yield but allows for smaller reflector and moderator, with ...

    journal_title:Australasian physical & engineering sciences in medicine

    pub_type: 杂志文章

    doi:

    authors: Zimin S,Allen BJ

    更新日期:1998-12-01 00:00:00

  • Physiologic outcome of varying speed rotary blood pump support algorithms: a review study.

    abstract::Rotary blood pumps have the potential to become a viable long-term treatment option for the heart failure patients to bridge to transplantation or destination therapy. However, these devices operate at a constant speed which may lead to long term complications or they may operate in an undesired support mode such as e...

    journal_title:Australasian physical & engineering sciences in medicine

    pub_type: 杂志文章,评审

    doi:10.1007/s13246-015-0405-y

    authors: Bozkurt S

    更新日期:2016-03-01 00:00:00

  • Management and autopsy of a radioactive cadaver.

    abstract::A 69 year old male was treated with an ablative dose of 3.7 GBq (100 mCi) of I131 for carcinoma of the thyroid and died 10 days after administration. The requirement for an autopsy and the level of radiation still present in the body necessitated the intervention of Radiation Safety Personnel to minimise support staff...

    journal_title:Australasian physical & engineering sciences in medicine

    pub_type: 杂志文章

    doi:

    authors: Wallace AB,Bush V

    更新日期:1991-06-01 00:00:00

  • Complexity quantification of cardiac variability time series using improved sample entropy (I-SampEn).

    abstract::The sample entropy (SampEn) has been widely used to quantify the complexity of RR-interval time series. It is a fact that higher complexity, and hence, entropy is associated with the RR-interval time series of healthy subjects. But, SampEn suffers from the disadvantage that it assigns higher entropy to the randomized ...

    journal_title:Australasian physical & engineering sciences in medicine

    pub_type: 杂志文章

    doi:10.1007/s13246-016-0457-7

    authors: Marwaha P,Sunkaria RK

    更新日期:2016-09-01 00:00:00

  • Continuous physiological monitoring: an integrated system for use in neonatal intensive care.

    abstract::A general purpose, multi-channel digital data acquisition and analysis system (Amlab, Associative Measurements, Sydney) configured to collect and process physiological signals including electroencephalograph and blood pressure is described. Its advantages over analog and single-purpose instrumentation are discussed as...

    journal_title:Australasian physical & engineering sciences in medicine

    pub_type: 杂志文章

    doi:

    authors: Hall GL,Colditz PB

    更新日期:1995-09-01 00:00:00

  • The impact of smart metal artefact reduction algorithm for use in radiotherapy treatment planning.

    abstract::The presence of metal artefacts in computed tomography (CT) create issues in radiation oncology. The loss of anatomical information and incorrect Hounsfield unit (HU) values produce inaccuracies in dose calculations, providing suboptimal patient treatment. Metal artefact reduction (MAR) algorithms were developed to co...

    journal_title:Australasian physical & engineering sciences in medicine

    pub_type: 杂志文章

    doi:10.1007/s13246-017-0543-5

    authors: Guilfoile C,Rampant P,House M

    更新日期:2017-06-01 00:00:00

  • Ozone, cloud, solar and UV-B levels at a low pollution, Southern Hemisphere, sub-tropical site for winter/spring 1995.

    abstract::This paper analyses daily ozone, cloud cover, solar radiation and broadband UV-B data for winter/spring at a low pollution Southern Hemispheric sub-tropical site (27.80 degrees S). The average ozone concentration for the period was 290 DU. An anti-correlation is presented between the ozone and UV-B data over a 5 day p...

    journal_title:Australasian physical & engineering sciences in medicine

    pub_type: 杂志文章

    doi:

    authors: Sabburg J,Parisi A,Wong J

    更新日期:1997-12-01 00:00:00

  • Response of air, silicon and dosimetric films to x-ray spectra of various qualities.

    abstract::Calculations have been performed of the kerma to radiographic film and to silicon from a number of x-ray spectra generated at 30 to 140 kV with tungsten and molybdenum targets. These results have been compared with the air-kerma values due to the same beams. It is concluded that both film and silicon can be used as pr...

    journal_title:Australasian physical & engineering sciences in medicine

    pub_type: 杂志文章

    doi:

    authors: Paix D

    更新日期:1992-12-01 00:00:00

  • ECG interference suppressed using a harmonic generator.

    abstract::Non-linear loading of the utilities supply introduced significant electromagnetic field (EMF) interference severe enough to disrupt electrocardiograph (ECG) monitoring and recordings in the new Emergency Department (ED) at the Royal Melbourne Hospital (RMH). This interference was evident even though standard Mu-metal ...

    journal_title:Australasian physical & engineering sciences in medicine

    pub_type: 杂志文章

    doi:10.1007/BF03178643

    authors: Davie WJ,Fowler MJ,Koumoundouros E

    更新日期:2009-09-01 00:00:00

  • Film dosimetry for the junction region of four compensated photon beams.

    abstract::A set of four 4 MV photon beam compensators were produced, one for each field of a Hodgkins Disease treatment plan. The resultant dose profiles at various depths were measured by an ion chamber in water and by Kodak X-Omat V film in a Solid Water phantom, and compared to the doses calculated by a GE RT/Plan treatment ...

    journal_title:Australasian physical & engineering sciences in medicine

    pub_type: 杂志文章

    doi:

    authors: Ralston AC,Francis JW

    更新日期:1992-03-01 00:00:00

  • Optimal selection of mother wavelet for accurate infant cry classification.

    abstract::Wavelet theory is emerging as one of the prevalent tool in signal and image processing applications. However, the most suitable mother wavelet for these applications is still a relative question mark amongst researchers. Selection of best mother wavelet through parameterization leads to better findings for the analysi...

    journal_title:Australasian physical & engineering sciences in medicine

    pub_type: 杂志文章

    doi:10.1007/s13246-014-0264-y

    authors: Saraswathy J,Hariharan M,Nadarajaw T,Khairunizam W,Yaacob S

    更新日期:2014-06-01 00:00:00

  • Determination of RW3-to-water mass-energy absorption coefficient ratio for absolute dosimetry.

    abstract::The measurement of absorbed dose to water in a solid-phantom may require a conversion factor because it may not be radiologically equivalent to water. One phantom developed for the use of dosimetry is a solid water, RW3 white-polystyrene material by IBA. This has a lower mass-energy absorption coefficient than water d...

    journal_title:Australasian physical & engineering sciences in medicine

    pub_type: 杂志文章

    doi:10.1007/s13246-011-0102-4

    authors: Seet KY,Hanlon PM,Charles PH

    更新日期:2011-12-01 00:00:00

  • A simulation study comparing nine mathematical models of arterial input function for dynamic contrast enhanced MRI to the Parker model.

    abstract::Due to large inter- and intra-patient variabilities of arterial input functions (AIFs), accurately modeling and using patient-specific AIF are very important for quantitative analysis of dynamic contrast enhanced MRI. Computer simulations were performed to evaluate and compare nine population AIF models with the Parke...

    journal_title:Australasian physical & engineering sciences in medicine

    pub_type: 杂志文章

    doi:10.1007/s13246-018-0632-0

    authors: He D,Xu L,Qian W,Clarke J,Fan X

    更新日期:2018-06-01 00:00:00

  • A feature study of innovative high-speed lancing device and safety lancet.

    abstract::The study developed two models of an innovative high-speed lancing device and safety lancet, where the specially designed structure causes high-speed motion of the lancet, resulting in only one puncture of the skin. The two experimental models and other lancing devices sold on market were compared in order to: (1) mea...

    journal_title:Australasian physical & engineering sciences in medicine

    pub_type: 杂志文章

    doi:10.1007/s13246-016-0490-6

    authors: Chang H,Yeh YJ,Lee R,Shyu JH

    更新日期:2016-12-01 00:00:00

  • A novel ultrasound based approach for lesion segmentation and its applications in gynecological laparoscopic surgery.

    abstract::Laparoscopic ultrasound (LUS) has been widely utilized as a surgical aide in general, urological, and gynecological applications. Our study summarizes the clinical applications of laparoscopic ultrasonography in laparoscopic gynecologic surgery. Retrospective analyses were performed on 42 women subjects using laparosc...

    journal_title:Australasian physical & engineering sciences in medicine

    pub_type: 杂志文章

    doi:10.1007/s13246-015-0363-4

    authors: Gong XH,Lu J,Liu J,Deng YY,Liu WZ,Huang X,Pirbhulal S,Yu ZY,Wu WQ

    更新日期:2015-12-01 00:00:00

  • The appearance and effects of metallic implants in CT images.

    abstract::The computed tomography (CT) imaging artefacts that metallic medical implants produce in surrounding tissues are usually contoured and over-ridden during radiotherapy treatment planning. In cases where radiotherapy treatment beams unavoidably pass though implants, it is especially important to understand the imaging a...

    journal_title:Australasian physical & engineering sciences in medicine

    pub_type: 杂志文章

    doi:10.1007/s13246-013-0197-x

    authors: Kairn T,Crowe SB,Fogg P,Trapp JV

    更新日期:2013-06-01 00:00:00

  • The clinical value of ophthalmic electrodiagnosis in children.

    abstract::A group of 113 children with poor vision who had been referred to the Electrodiagnostic Clinic over a five year period were investigated for disease of the retina and optic pathway by electroretinography (ERG), electro-oculography (EOG) and visual evoked response (VER). The electrodiagnostic measurements were made usi...

    journal_title:Australasian physical & engineering sciences in medicine

    pub_type: 杂志文章

    doi:10.1007/BF03178360

    authors: Hidajat RR,Goode DH

    更新日期:2001-09-01 00:00:00

  • Comparison study of different head model structures with homogeneous/inhomogeneous conductivity.

    abstract::Most of the human head models used in dipole localisation research, which have been reported in the literature to date, assume a simplified cranial structure wherein the head is modelled as a set of distinct homogenous tissue compartments. The inherent inhomogeneity of the tissues has so far been ignored in these mode...

    journal_title:Australasian physical & engineering sciences in medicine

    pub_type: 杂志文章

    doi:10.1007/BF03178283

    authors: Wen P,Li Y

    更新日期:2001-03-01 00:00:00

  • Development of a method for manufacturing customized nasal mask cushion for CPAP therapy.

    abstract::A continuous positive airway pressure (CPAP) device is considered one of the most effective treatments for obstructive sleep apnea (OSA). However, many patients receiving this treatment complain of mask discomfort and other issues. Therefore, this study aimed to develop a customized nasal mask cushion to reduce the di...

    journal_title:Australasian physical & engineering sciences in medicine

    pub_type: 杂志文章

    doi:10.1007/s13246-015-0383-0

    authors: Hsu DY,Cheng YL,Bien MY,Lee HC

    更新日期:2015-12-01 00:00:00

  • Thermoluminescence dosimetry and its applications in medicine--Part 1: Physics, materials and equipment.

    abstract::Thermoluminescence dosimetry (TLD) is a versatile tool for the assessment of dose from ionising radiation. The wide variety of TLD materials and their different physical forms allow the determination of different radiation qualities at dose levels from microGy to kGy. Major advantages of TL dosimeters are their small ...

    journal_title:Australasian physical & engineering sciences in medicine

    pub_type: 杂志文章,评审

    doi:

    authors: Kron T

    更新日期:1994-12-01 00:00:00

  • An assessment on the use of RadCalc to verify Raystation Electron Monte Carlo plans.

    abstract::Large differences in monitor units have been observed when RadCalc, a pencil-beam-algorithm based software, is used to verify clinical electron plans from Raystation, a Monte-Carlo-algorithm based planning system. To investigate the problem, a number of clinical plans as well as test plans were created and calculated ...

    journal_title:Australasian physical & engineering sciences in medicine

    pub_type: 杂志文章

    doi:10.1007/s13246-016-0470-x

    authors: Hu Y,Archibald-Heeren B,Byrne M,Wang Y

    更新日期:2016-09-01 00:00:00

  • ACPSEM ROSG TBI working group recommendations for quality assurance in total body irradiation.

    abstract::The Australasian College of Physical Scientists and Engineers in Medicine (ACPSEM) radiation oncology specialty group (ROSG) formed a series of working groups in 2011 to develop recommendations for guidance of radiation oncology medical physics practice within the Australasian setting. These recommendations are intend...

    journal_title:Australasian physical & engineering sciences in medicine

    pub_type: 杂志文章,实务指引

    doi:10.1007/s13246-015-0344-7

    authors: Nelligan R,Bailey M,Tran T,Baldwin Z,ACPSEM total body irradiation working group.

    更新日期:2015-06-01 00:00:00

  • ACPSEM ROSG Oncology-PACS and OIS working group recommendations for quality assurance.

    abstract::The Australasian College of Physical Scientists and Engineers in Medicine (ACPSEM) Radiation Oncology Specialty Group (ROSG) formed a series of working groups in 2011 to develop position papers for guidance of radiation oncology medical physics practice within the Australasian setting. These position papers are intend...

    journal_title:Australasian physical & engineering sciences in medicine

    pub_type: 杂志文章

    doi:10.1007/s13246-013-0238-5

    authors: Shakeshaft J,Perez M,Tremethick L,Ceylan A,Bailey M

    更新日期:2014-03-01 00:00:00

  • The peripheral dose outside the applicator in electron beams of an Elekta linear accelerator.

    abstract::Peripheral doses out of field could have short and long terms biological effects on patients treated with electron beams. In this study, peripheral dose outside the applicator was measured using the 6, 10 and 18 MeV beams of an Elekta synergy linac. For these beams dose profiles were measured using EBT3 film at variou...

    journal_title:Australasian physical & engineering sciences in medicine

    pub_type: 杂志文章

    doi:10.1007/s13246-018-0660-9

    authors: Haghparast A,Amiri F,Yarahmadi M,Rezaei M

    更新日期:2018-09-01 00:00:00

  • Comparison of 192Ir air kerma calibration coefficients derived at ARPANSA using the interpolation method and at the National Physical Laboratory using a direct measurement.

    abstract::The reference air kerma rate from 192Ir High Dose Rate (HDR) brachytherapy sources can be measured using a suitably calibrated Farmer chamber and an appropriate in-air calibration jig. When a primary standard for 192Ir gamma rays is available, a calibration coefficient for the chamber and jig combination can be determ...

    journal_title:Australasian physical & engineering sciences in medicine

    pub_type: 杂志文章

    doi:10.1007/BF03178603

    authors: Butler D,Haworth A,Sander T,Todd S

    更新日期:2008-12-01 00:00:00

  • A Monte Carlo technique to establish the water/tissue equivalence of phantom materials.

    abstract::The quality of phantom materials is crucial for accurate dosimetry in radiotherapy. A wide range of factors such as density, electron density and elemental composition can influence the radiation properties, and hence the absorbed dose, of materials. New materials can be tested by direct measurements which requires co...

    journal_title:Australasian physical & engineering sciences in medicine

    pub_type: 杂志文章

    doi:

    authors: Keall P,Kron T,Hoban P

    更新日期:1993-09-01 00:00:00

  • Light-weight lead aprons--light on weight, protection or labelling accuracy?

    abstract::X-ray transmission tests were performed on a Green-Lite (Infab Corporation) apron/vest combination, and compared to a number of other apron/vest combinations routinely used at Christchurch Hospital as well as a sheet of 0.5 mm lead. The materials were X-rayed using the primary beam of a Philips Optimus 50 X-ray machin...

    journal_title:Australasian physical & engineering sciences in medicine

    pub_type: 杂志文章

    doi:10.1007/BF03178704

    authors: Muir S,McLeod R,Dove R

    更新日期:2005-06-01 00:00:00