Recommendations for the collection and use of multiplexed functional data for clinical variant interpretation

Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report

(2019) Amanda B Spurdle et al.   JOURNAL OF MEDICAL GENETICS

A Combined Approach Reveals a Regulatory Mechanism Coupling Src’s Kinase Activity, Localization, and Phosphotransferase-Independent Functions

(2019) Ethan Ahler et al.   MOLECULAR CELL

Functional testing of thousands of osteoarthritis-associated variants for regulatory activity

(2019) Jason C. Klein et al.   Nature Communications

A dominant-negative effect drives selection of TP53 missense mutations in myeloid malignancies

(2019) Steffen Boettcher et al.   SCIENCE

Saturation mutagenesis of twenty disease-associated regulatory elements at single base-pair resolution

(2019) Martin Kircher et al.   Nature Communications

Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework

(2019) Sarah E. Brnich et al.   Genome Medicine

A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships

(2018) Taylor L. Mighell et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework

(2018) Sean V Tavtigian et al.   GENETICS IN MEDICINE

Genome-first findings require precision phenotyping

(2018) Monica A. Giovanni et al.   GENETICS IN MEDICINE

A Systematic p53 Mutation Library Links Differential Functional Impact to Cancer Mutation Pattern and Evolutionary Conservation

(2018) Eran Kotler et al.   MOLECULAR CELL

Multiplex assessment of protein variant abundance by massively parallel sequencing

(2018) Kenneth A. Matreyek et al.   NATURE GENETICS

Quantitative Missense Variant Effect Prediction Using Large-Scale Mutagenesis Data

(2018) Vanessa E. Gray et al.   Cell Systems

A Multiplex Homology-Directed DNA Repair Assay Reveals the Impact of More Than 1,000 BRCA1 Missense Substitution Variants on Protein Function

(2018) Lea M. Starita et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Accurate classification of BRCA1 variants with saturation genome editing

(2018) Gregory M. Findlay et al.   NATURE

Mutational processes shape the landscape of TP53 mutations in human cancer

(2018) Andrew O. Giacomelli et al.   NATURE GENETICS

ClinGen Allele Registry links information about genetic variants

(2018) Piotr Pawliczek et al.   HUMAN MUTATION

Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel

(2018) Jessica L. Mester et al.   HUMAN MUTATION

Updated recommendation for the benign stand-alone ACMG/AMP criterion

(2018) Rajarshi Ghosh et al.   HUMAN MUTATION

BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2

(2018) Melissa S. Cline et al.   PLoS Genetics

Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer

(2017) Marilyn M. Li et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

A framework for exhaustively mapping functional missense variants

(2017) Jochen Weile et al.   Molecular Systems Biology

ClinVar: improving access to variant interpretations and supporting evidence

(2017) Melissa J Landrum et al.   NUCLEIC ACIDS RESEARCH

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Prospective functional classification of all possible missense variants in PPARG

(2016) Amit R Majithia et al.   NATURE GENETICS

The power of multiplexed functional analysis of genetic variants

(2016) Molly Gasperini et al.   Nature Protocols

COSMIC: somatic cancer genetics at high-resolution

(2016) Simon A. Forbes et al.   NUCLEIC ACIDS RESEARCH

The FAIR Guiding Principles for scientific data management and stewardship

(2016) Mark D. Wilkinson et al.   Scientific Data

Massively Parallel Functional Analysis of BRCA1 RING Domain Variants

(2015) Lea M. Starita et al.   GENETICS

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

Making proteomics data accessible and reusable: Current state of proteomics databases and repositories

(2015) Yasset Perez-Riverol et al.   PROTEOMICS

Massively Parallel Functional Analysis of BRCA1 RING Domain Variants

(2015) Lea M. Starita et al.   GENETICS

Deep mutational scanning: a new style of protein science

(2014) Douglas M Fowler et al.   NATURE METHODS

The Cancer Genome Atlas Pan-Cancer analysis project

(2013) John N Weinstein et al.   NATURE GENETICS

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

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

Toward interoperable bioscience data

(2012) Susanna-Assunta Sansone et al.   NATURE GENETICS

Protein localization in disease and therapy

(2011) M.-C. Hung et al.   JOURNAL OF CELL SCIENCE

High-resolution mapping of protein sequence-function relationships

(2010) Douglas M Fowler et al.   NATURE METHODS

Locus Reference Genomic sequences: an improved basis for describing human DNA variants

(2010) Raymond Dalgleish et al.   Genome Medicine

High-resolution analysis of DNA regulatory elements by synthetic saturation mutagenesis

(2009) Rupali P Patwardhan et al.   NATURE BIOTECHNOLOGY