[HTML][HTML] Standards and guidelines for the interpretation and reporting of sequence variants in cancer: a joint consensus recommendation of the Association for …
Widespread clinical laboratory implementation of next-generation sequencing–based
cancer testing has highlighted the importance and potential benefits of standardizing the …
cancer testing has highlighted the importance and potential benefits of standardizing the …
Computational analysis of cancer genome sequencing data
Distilling biologically meaningful information from cancer genome sequencing data requires
comprehensive identification of somatic alterations using rigorous computational methods …
comprehensive identification of somatic alterations using rigorous computational methods …
Proteingym: Large-scale benchmarks for protein fitness prediction and design
Predicting the effects of mutations in proteins is critical to many applications, from
understanding genetic disease to designing novel proteins to address our most pressing …
understanding genetic disease to designing novel proteins to address our most pressing …
Disease variant prediction with deep generative models of evolutionary data
Quantifying the pathogenicity of protein variants in human disease-related genes would
have a marked effect on clinical decisions, yet the overwhelming majority (over 98%) of …
have a marked effect on clinical decisions, yet the overwhelming majority (over 98%) of …
Genomic architecture of autism from comprehensive whole-genome sequence annotation
B Trost, B Thiruvahindrapuram, AJS Chan… - Cell, 2022 - cell.com
Fully understanding autism spectrum disorder (ASD) genetics requires whole-genome
sequencing (WGS). We present the latest release of the Autism Speaks MSSNG resource …
sequencing (WGS). We present the latest release of the Autism Speaks MSSNG resource …
dbNSFP v4: a comprehensive database of transcript-specific functional predictions and annotations for human nonsynonymous and splice-site SNVs
Whole exome sequencing has been increasingly used in human disease studies.
Prioritization based on appropriate functional annotations has been used as an …
Prioritization based on appropriate functional annotations has been used as an …
Ensembl 2019
F Cunningham, P Achuthan, W Akanni… - Nucleic acids …, 2019 - academic.oup.com
Abstract The Ensembl project (https://www. ensembl. org) makes key genomic data sets
available to the entire scientific community without restrictions. Ensembl seeks to be a …
available to the entire scientific community without restrictions. Ensembl seeks to be a …
Genomic and molecular landscape of DNA damage repair deficiency across the cancer genome atlas
TA Knijnenburg, L Wang, MT Zimmermann… - Cell reports, 2018 - cell.com
DNA damage repair (DDR) pathways modulate cancer risk, progression, and therapeutic
response. We systematically analyzed somatic alterations to provide a comprehensive view …
response. We systematically analyzed somatic alterations to provide a comprehensive view …
Association analysis identifies 65 new breast cancer risk loci
Breast cancer risk is influenced by rare coding variants in susceptibility genes, such as
BRCA1, and many common, mostly non-coding variants. However, much of the genetic …
BRCA1, and many common, mostly non-coding variants. However, much of the genetic …
Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes
Abstract Germline SAMD9 and SAMD9L mutations (SAMD9/9L mut) predispose to
myelodysplastic syndromes (MDS) with propensity for somatic rescue. In this study, we …
myelodysplastic syndromes (MDS) with propensity for somatic rescue. In this study, we …