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Protein bioinformatics databases and resources
Many publicly available data repositories and resources have been developed to support
protein-related information management, data-driven hypothesis generation, and biological …
protein-related information management, data-driven hypothesis generation, and biological …
Towards precision medicine: advances in computational approaches for the analysis of human variants
TA Peterson, E Doughty, MG Kann - Journal of molecular biology, 2013 - Elsevier
Variations and similarities in our individual genomes are part of our history, our heritage,
and our identity. Some human genomic variants are associated with common traits such as …
and our identity. Some human genomic variants are associated with common traits such as …
Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models
The rate at which nonsynonymous single nucleotide polymorphisms (ns SNP s) are being
identified in the human genome is increasing dramatically owing to advances in whole …
identified in the human genome is increasing dramatically owing to advances in whole …
GWASdb v2: an update database for human genetic variants identified by genome-wide association studies
Genome-wide association studies (GWASs), now as a routine approach to study single-
nucleotide polymorphism (SNP)-trait association, have uncovered over ten thousand …
nucleotide polymorphism (SNP)-trait association, have uncovered over ten thousand …
Pan-cancer analysis of mutation hotspots in protein domains
In cancer genomics, recurrence of mutations in independent tumor samples is a strong
indicator of functional impact. However, rare functional mutations can escape detection by …
indicator of functional impact. However, rare functional mutations can escape detection by …
SLC transporters as a novel class of tumour suppressors: identity, function and molecular mechanisms
The role of plasma membrane transporters in cancer is receiving increasing attention in
recent years. Several transporters for essential nutrients are up-regulated in cancer and …
recent years. Several transporters for essential nutrients are up-regulated in cancer and …
Bi-allelic mutations in PKD1L1 are associated with laterality defects in humans
Disruption of the establishment of left-right (LR) asymmetry leads to situs anomalies ranging
from situs inversus totalis (SIT) to situs ambiguus (heterotaxy). The genetic causes of …
from situs inversus totalis (SIT) to situs ambiguus (heterotaxy). The genetic causes of …
[HTML][HTML] Human COQ10A and COQ10B are distinct lipid-binding START domain proteins required for coenzyme Q function
HS Tsui, NVB Pham, BR Amer, MC Bradley… - Journal of lipid …, 2019 - Elsevier
Coenzyme Q (CoQ or ubiquinone) serves as an essential redox-active lipid in respiratory
electron and proton transport during cellular energy metabolism. CoQ also functions as a …
electron and proton transport during cellular energy metabolism. CoQ also functions as a …
Chapter 15: disease gene prioritization
Y Bromberg - PLoS computational biology, 2013 - journals.plos.org
Disease-causing aberrations in the normal function of a gene define that gene as a disease
gene. Proving a causal link between a gene and a disease experimentally is expensive and …
gene. Proving a causal link between a gene and a disease experimentally is expensive and …
Bioinformatics for personal genome interpretation
E Capriotti, NL Nehrt, MG Kann… - Briefings in …, 2012 - academic.oup.com
An international consortium released the first draft sequence of the human genome 10 years
ago. Although the analysis of this data has suggested the genetic underpinnings of many …
ago. Although the analysis of this data has suggested the genetic underpinnings of many …