Mutational landscape of metastatic cancer revealed from prospective clinical sequencing of 10,000 patients

Ahmet Zehir, Ryma Benayed, Ronak Shah, +96

Nature Medicine

Metastatic CancerOncologySomatic VariantMutational LandscapeTumor Heterogeneity +10

REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants

Nilah M. Ioannidis, Joseph H. Rothstein, Vikas Pejaver, +38

The American Journal of Human Genetics

Genome-wide Association StudyAllelic VariantGenotype-phenotype AssociationMedicineGenetics +12

The Genomic Landscape of Endocrine-Resistant Advanced Breast Cancers

Pedram Razavi, Matthew T. Chang, Guotai Xu, +42

Cancer Cell

Breast OncologyGenomic LandscapeCancer GenomicsBreast CancerRadiation Oncology +1

Clinical Sequencing Defines the Genomic Landscape of Metastatic Colorectal Cancer

Rona Yaeger, Walid K. Chatila, Marla Lipsyc, +26

Cancer Cell

Tumor HeterogeneityClinical Sequencing DefinesMedicineColorectal CancerPathology +5

Analysis of the Prevalence of Microsatellite Instability in Prostate Cancer and Response to Immune Checkpoint Blockade

Wassim Abida, Michael L. Cheng, Joshua Armenia, +28

JAMA Oncology

Microsatellite Instability Is Associated With the Presence of Lynch Syndrome Pan-Cancer

Alicia Latham, Preethi Srinivasan, Yelena Kemel, +41

Journal of Clinical Oncology

Genetic diversity of tumors with mismatch repair deficiency influences anti–PD-1 immunotherapy response

Rajarsi Mandal, Robert Samstein, Ken-Wing Lee, +21

Science

ImmunodeficienciesImmunologyPathologyMismatch Repair DeficiencyImmunotherapy +14

MAP-RSeq: Mayo Analysis Pipeline for RNA sequencing

Krishna R. Kalari, Asha Nair, Jaysheel Bhavsar, +12

BMC Bioinformatics

Whole-genome sequencing of multiple myeloma from diagnosis to plasma cell leukemia reveals genomic initiating events, evolution, and clonal tides

Jan B. Egan, Chang-Xin Shi, Waibhav Tembe, +13

Blood

Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss

Christopher J. Klein, Maria Victoria Botuyan, Yanhong Wu, +20

Nature Genetics

Neurodegenerative DiseasesMendelian DisorderGenetic DisorderGeneticsDegenerative Disease +6