Germline whole genome sequencing in adults with multiple primary tumors

The NHS England 100,000 Genomes Project: feasibility and utility of centralised genome sequencing for children with cancer

(2022) Jamie Trotman et al.   BRITISH JOURNAL OF CANCER

Clinical whole‐genome sequencing in cancer diagnosis

(2022) Ying‐Chen C. Hou et al.   HUMAN MUTATION

Cancer carrier screening in the general population using whole‐genome sequencing

(2022) Ya‐Sian Chang et al.   Cancer Medicine

Analysis of rare disruptive germline mutations in 2135 enriched BRCA-negative breast cancers excludes additional high-impact susceptibility genes

(2022) C. Loveday et al.   ANNALS OF ONCOLOGY

Implementation of paediatric precision oncology into clinical practice: The Individualized Therapies for Children with cancer program ‘iTHER’

(2022) Karin P.S. Langenberg et al.   EUROPEAN JOURNAL OF CANCER

Noncoding Aberrations in Mismatch Repair Genes Underlie a Substantial Part of the Missing Heritability in Lynch Syndrome

(2022) Iris B.A. W. Te Paske et al.   GASTROENTEROLOGY

SCIP: software for efficient clinical interpretation of copy number variants detected by whole-genome sequencing

(2022) Qiliang Ding et al.   HUMAN GENETICS

Genome screening, reporting, and genetic counseling for healthy populations

(2022) Selina Casalino et al.   HUMAN GENETICS

Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer

(2021) Rabea Wagener et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Micro-costing diagnostics in oncology: from single-gene testing to whole- genome sequencing

(2021) Clémence T. B. Pasmans et al.   Expert Review of Pharmacoeconomics & Outcomes Research

Toward best practice in cancer mutation detection with whole-genome and whole-exome sequencing

(2021) Wenming Xiao et al.   NATURE BIOTECHNOLOGY

Genome sequencing as a diagnostic test

(2021) Gregory Costain et al.   CANADIAN MEDICAL ASSOCIATION JOURNAL

Prevalence and spectrum of pathogenic variants among patients with multiple primary cancers evaluated by clinical characteristics

(2021) Brittany L. Bychkovsky et al.   CANCER

Pan-cancer analysis of whole genomes

(2020)   NATURE

Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes

(2020) Anna Byrjalsen et al.   PLoS Genetics

Whole-genome sequencing reveals clinically relevant insights into the aetiology of familial breast cancers

(2019) K Nones et al.   ANNALS OF ONCOLOGY

Clinical utility of genomic sequencing

(2019) Matthew B. Neu et al.   CURRENT OPINION IN PEDIATRICS

Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)

(2019) Erin Rooney Riggs et al.   GENETICS IN MEDICINE

A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data

(2018) Brett Trost et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes

(2018) James Whitworth et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Clinical genetic testing outcome with multi-gene panel in Asian patients with multiple primary cancers

(2018) Gloria H.J. Chan et al.   Oncotarget

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test

(2017) Anath C Lionel et al.   GENETICS IN MEDICINE

Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors

(2016) D. Williams Parsons et al.   JAMA Oncology

Precision medicine in heritable cancer: when somatic tumour testing and germline mutations meet

(2016) Joanne Ngeow et al.   npj Genomic Medicine

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

A clinical and genetic analysis of multiple primary cancer referrals to genetics services

(2014) James Whitworth et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Multiple primary cancers as a guide to heritability

(2014) Cezary Cybulski et al.   INTERNATIONAL JOURNAL OF CANCER

Copy number variations and cancer

(2009) Adam Shlien et al.   Genome Medicine