Search Results - "Hinchcliffe, Marcus"

Managing incidental findings in exome sequencing for research by Hinchcliffe, Marcus J

“…Exome sequencing for research has become available for broadly based genomic studies as well as smaller targeted investigations. New exome research projects…”
Get more information

Utility of NIST Whole-Genome Reference Materials for the Technical Validation of a Multigene Next-Generation Sequencing Test by Shum, Bennett O.V, Henner, Ilya, Belluoccio, Daniele, Hinchcliffe, Marcus J

“…The sensitivity and specificity of next-generation sequencing laboratory developed tests (LDTs) are typically determined by an analyte-specific approach…”
Get full text

Identifying Glucokinase Monogenic Diabetes in a Multiethnic Gestational Diabetes Mellitus Cohort: New Pregnancy Screening Criteria and Utility of HbA1c by Rudland, Victoria L, Hinchcliffe, Marcus, Pinner, Jason, Cole, Stuart, Mercorella, Belinda, Molyneaux, Lynda, Constantino, Maria, Yue, Dennis K, Ross, Glynis P, Wong, Jencia

“…Glucokinase monogenic diabetes (GCK-maturity-onset diabetes of the young [MODY]) should be differentiated from gestational diabetes mellitus (GDM) because…”
Get full text

Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing by Mallawaarachchi, Amali C, Lundie, Ben, Hort, Yvonne, Schonrock, Nicole, Senum, Sarah R, Gayevskiy, Velimir, Minoche, Andre E, Hollway, Georgina, Ohnesorg, Thomas, Hinchcliffe, Marcus, Patel, Chirag, Tchan, Michel, Mallett, Andrew, Dinger, Marcel E, Rangan, Gopala, Cowley, Mark J, Harris, Peter C, Burnett, Leslie, Shine, John, Furlong, Timothy J

“…Autosomal Dominant Polycystic Kidney Disease (ADPKD) is common, with a prevalence of 1/1000 and predominantly caused by disease-causing variants in PKD1 or…”
Get full text

Identifying Glucokinase Monogenic Diabetes in a Multiethnic Gestational Diabetes Mellitus Cohort: New Pregnancy Screening Criteria and Utility of HbA^sub 1c by Rudland, Victoria L, Hinchcliffe, Marcus, Pinner, Jason, Cole, Stuart, Mercorella, Belinda, Molyneaux, Lynda, Constantino, Maria, Yue, Dennis K, Ross, Glynis P, Wong, Jencia

“…Glucokinase monogenic diabetes (GCK-maturity-onset diabetes of the young [MODY]) should be differentiated from gestational diabetes mellitus (GDM) because…”
Get full text

Diagnostic validation of a familial hypercholesterolaemia cohort provides a model for using targeted next generation DNA sequencing in the clinical setting by Hinchcliffe, Marcus, Le, Huong, Fimmel, Anthony, Molloy, Laura, Freeman, Lucinda, Sullivan, David, Trent, Ronald J.

“…Our aim was to assess the sensitivity and specificity of a next generation DNA sequencing (NGS) platform using a capture based DNA library preparation method…”
Get full text

In silico analysis of the exome for gene discovery by Hinchcliffe, Marcus, Webster, Paul

“…Here we describe a bioinformatic strategy for extracting and analyzing the list of variants revealed from an exome sequencing project to identify potential…”
Get more information

Computer-assisted reading of DNA sequences by Le, Huong, Hinchcliffe, Marcus, Yu, Bing, Trent, Ronald J A

“…DNA sequencing is increasingly used in a range of medical activities involving DNA diagnostics and research. This is the result of improving technology and…”
Get more information

Complex phenotypes in the haemoglobinopathies: recommendations on screening and DNA testing by Trent, Ronald J., Webster, Boyd, Bowden, Donald K., Gilbert, Anne, Joy Ho, P., Lindeman, Robert, Lammi, Ahti, Rowell, John, Hinchcliffe, Marcus, Colley, Alison, Wilson, Meredith, Saleh, Mona, Blackwell, Jennifer, Petrou, Vicki

“…This document considers a number of scenarios involving complex haemoglobinopathies and provides 28 recommendations at both the clinical and laboratory levels…”
Get full text