The challenge of comprehensive and consistent sequence variant interpretation between clinical laboratories

Annotating DNA Variants Is the Next Major Goal for Human Genetics

(2014) Garry R. Cutting   AMERICAN JOURNAL OF HUMAN GENETICS

Refining the structure and content of clinical genomic reports

(2014) Michael O. Dorschner et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Clinical Interpretation and Implications of Whole-Genome Sequencing

(2014) Frederick E. Dewey et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

SDS, a structural disruption score for assessment of missense variant deleteriousness

(2014) Thanawadee Preeprem et al.   Frontiers in Genetics

Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic)

(2013) Mireille Claustres et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Large numbers of individuals are required to classify and define risk for rare variants in known cancer risk genes

(2013) Brian H. Shirts et al.   GENETICS IN MEDICINE

ClinVar: public archive of relationships among sequence variation and human phenotype

(2013) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Predicting the Functional Effect of Amino Acid Substitutions and Indels

(2012) Yongwook Choi et al.   PLoS One

Comparison of Programs for in silico Assessment of Missense Substitutions

(2011) Sean V. Tavtigian   HUMAN MUTATION

ENIGMA-Evidence-based network for the interpretation of germline mutant alleles: An international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes

(2011) Amanda B. Spurdle et al.   HUMAN MUTATION

Prediction of missense mutation functionality depends on both the algorithm and sequence alignment employed

(2011) Stephanie Hicks et al.   HUMAN MUTATION

The Clinical Significance of Unknown Sequence Variants in BRCA Genes

(2010) Valentina Calò et al.   Cancers

Variability in interpreting and reporting copy number changes detected by array-based technology in clinical laboratories

(2009) Karen D Tsuchiya et al.   GENETICS IN MEDICINE

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

(2008) C Sue Richards et al.   GENETICS IN MEDICINE

A new locus-specific database (LSDB) for mutations in theTGFBR2gene: UMD-TGFBR2

(2007) Melissa Yana Frederic et al.   HUMAN MUTATION