Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Richard Scott

6PUBLICATIONS

64CO-AUTHORS

Cancer geneticsData mining and knowledge discoveryNeurogeneticsEpigenetics (incl. genome methylation and epigenomics)Genomics

Featured researcher

Get your video featured.

Publish with JoVE

Featured researcher

Get your video featured.

Publish with JoVE

Publications (6)

Sort by Publication Date:

|Oct 31, 2024

Large-Scale Pharmacogenomics Analysis of Patients With Cancer Within the 100,000 Genomes Project Combining Whole-Genome Sequencing and Medical Records to Inform Clinical Practice.

Ivone U S Leong, Claudia P Cabrera, Valentina Cipriani

|Oct 07, 2024

A call to action to scale up research and clinical genomic data sharing.

Zornitza Stark, David Glazer, Oliver Hofmann

|Dec 27, 2023

Whole genome sequencing to screen 100 000 newborns for treatable genetic disorders.

Shamima Rahman, David Bick, Richard H Scott

|Jun 29, 2023

Genomic newborn screening for rare diseases.

Zornitza Stark, Richard H Scott

|Jul 25, 2022

MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia.

Kimberley M Reid, Robert Spaull, Smrithi Salian

|Jul 21, 2022

Re: Best et al., 'Unlocking the potential of the UK 100,000 Genomes Project - Lessons learned from analysis of the "Congenital malformations caused by ciliopathies" cohort'.

Matthew A Brown, Christopher Wigley, Susan Walker

Pageof 1

Frequent Collaborators

2 joint publications

Matthew A Brown

2 joint publications

Susan Walker

2 joint publications

Augusto Rendon

2 joint publications

Zornitza Stark

1 joint publications

Robert Spaull

1 joint publications

Smrithi Salian

1 joint publications

Deborah Lancaster

1 joint publications

Juan Zhen

1 joint publications

Hiromi Hirata

1 joint publications

Kathleen M Gorman

Frequent Collaborators

2 joint publications

Matthew A Brown

2 joint publications

Susan Walker

2 joint publications

Augusto Rendon

2 joint publications

Zornitza Stark

Top Related Videos

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing

Published on : Oct 18, 2013

Performing Data Mining And Integrative Analysis Of Biomarker in Breast Cancer Using Multiple Publicly Accessible Databases

Performing Data Mining And Integrative Analysis Of Biomarker in Breast Cancer Using Multiple Publicly Accessible Databases

Published on : May 17, 2019

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on : Jun 15, 2011

See more related videos

Top Related Videos

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing

Published on : Oct 18, 2013

Performing Data Mining And Integrative Analysis Of Biomarker in Breast Cancer Using Multiple Publicly Accessible Databases

Performing Data Mining And Integrative Analysis Of Biomarker in Breast Cancer Using Multiple Publicly Accessible Databases

Published on : May 17, 2019

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on : Jun 15, 2011

See more related videos