Max Schubach
Molecular Biology · 2014–2024
A researcher in the Science corpus: 5 papers; trusts 4 researchers and is trusted by 0 researchers here, as inferred from the citation graph.
Subfields
- Molecular Biology — 130 citations into it
- Genetics — 97 citations into it
Whom Max Schubach trusts overall
Their strongest outbound trust, strongest first, inferred from their citations.
- Philipp Rentzsch
- Martin Kircher
- Jason Ernst
- Yaniv Erlich
- Daniela M. Witten
- Nadav Brandes
- Joshua Meier
- Jay Shendure
- Manolis Kellis
- Arvind Narayanan
Papers from Max Schubach's perspective
Ordered by how strongly the researchers Max Schubach trusts endorse each paper. Same corpus, a different order for every researcher.
- A method and server for predicting damaging missense mutations
- A general framework for estimating the relative pathogenicity of human genetic variants
- dbNSFP: A Lightweight Database of Human Non-synonymous SNPs and Their Functional Predictions (Human Mutation)
- A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®) (Human Mutation)
- ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
- MutationTaster2: mutation prediction for the deep-sequencing age
- Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
- The Human Gene Mutation Database: 2008 update
- The Ensembl gene annotation system (Database J. Biol. Databases Curation)
- ClinVar: public archive of relationships among sequence variation and human phenotype
Their papers
- Next-generation diagnostics and disease-gene discovery with the Exomiser (2015) — 400 citations
- A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. (2016) — 252 citations
- CADD-Splice—improving genome-wide variant effect prediction using deep learning-derived splice scores (2021) — 563 citations
- CADD v1.7: using protein language models, regulatory CNNs and other nucleotide-level scores to improve genome-wide variant predictions (2024) — 369 citations
- An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge (2014) — 308 citations