Concepedia

Haplotype-based analysis resolves missing heritability in oculocutaneous albinism type 1B

Stacie K. Loftus, M. Gillis, Linnea Lundh, Laura L. Baxter, Julia C. Wedel, Dawn E. Watkins‐Chow, Frank X. Donovan, Yuri V. Sergeev, William S. Oetting, William J. Pavan,

The American Journal of Human Genetics · 2023 · 20 citations · 37 references

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37

UCSF Chimera—A visualization system for exploratory research and analysis

Eric F. Pettersen, Thomas D. Goddard, Conrad C. Huang et al. · Journal of Computational Chemistry · 2004 · 47.8K citations

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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

Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 32.2K citations · Full text

, , +17

The mutational constraint spectrum quantified from variation in 141,456 humans

Konrad J. Karczewski, Laurent C. Francioli, Grace Tiao et al. · Nature · 2020 · 10.1K citations · Full text

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AlphaFold Protein Structure Database: massively expanding the structural coverage of protein-sequence space with high-accuracy models

Mihály Váradi, Stephen Anyango, Mandar Deshpande et al. · Nucleic Acids Research · 2021 · 8.3K citations · Full text

, , +14

dbSNP: the NCBI database of genetic variation

Stephen T. Sherry · Nucleic Acids Research · 2001 · 7.8K citations · Full text

, , +17