A formal perturbation equation between genotype and phenotype determines the Evolutionary Action of protein-coding variations on fitness.
about
DECIPHER: harnessing local sequence context to improve protein multiple sequence alignmentIt's more than stamp collecting: how genome sequencing can unify biological researchAnalysis of genetic variation and potential applications in genome-scale metabolic modelingGenetic Basis of Common Human Disease: Insight into the Role of Missense SNPs from Genome-Wide Association StudiesUET: a database of evolutionarily-predicted functional determinants of protein sequences that cluster as functional sites in protein structures.StructMAn: annotation of single-nucleotide polymorphisms in the structural contextSingle nucleotide variations: biological impact and theoretical interpretation.Evolutionary Action Score of TP53 Identifies High-Risk Mutations Associated with Decreased Survival and Increased Distant Metastases in Head and Neck Cancer.Elucidation of G-protein and β-arrestin functional selectivity at the dopamine D2 receptorSpecific TP53 Mutants Overrepresented in Ovarian Cancer Impact CNV, TP53 Activity, Responses to Nutlin-3a, and Cell Survival.Codon-level co-occurrences of germline variants and somatic mutations in cancer are rare but often lead to incorrect variant annotation and underestimated impact prediction.REPURPOSING GERMLINE EXOMES OF THE CANCER GENOME ATLAS DEMANDS A CAUTIOUS APPROACH AND SAMPLE-SPECIFIC VARIANT FILTERINGIntramolecular allosteric communication in dopamine D2 receptor revealed by evolutionary amino acid covariation.DISCOVERY OF FUNCTIONAL AND DISEASE PATHWAYS BY COMMUNITY DETECTION IN PROTEIN-PROTEIN INTERACTION NETWORKS.Benchmarking predictions of allostery in liver pyruvate kinase in CAGI4.Integration of structural dynamics and molecular evolution via protein interaction networks: a new era in genomic medicine.Comprehensive and Integrative Genomic Characterization of Hepatocellular Carcinoma.Objective assessment of the evolutionary action equation for the fitness effect of missense mutations across CAGI-blinded contests.MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome.Predicting phenotype from genotype: Improving accuracy through more robust experimental and computational modeling.PANTHER-PSEP: predicting disease-causing genetic variants using position-specific evolutionary preservation.Spatial distribution of disease-associated variants in three-dimensional structures of protein complexes.The tumor suppressor capability of p53 is dependent on non-muscle myosin IIA function in head and neck cancer.HUMAN KINASES DISPLAY MUTATIONAL HOTSPOTS AT COGNATE POSITIONS WITHIN CANCER.Quantitative Missense Variant Effect Prediction Using Large-Scale Mutagenesis Data.Gnathodiaphyseal dysplasia: Severe atypical presentation with novel heterozygous mutation of the anoctamin gene (ANO5).Evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines.Evolutionary action and structural basis of the allosteric switch controlling β2AR functional selectivity.Ensemble variant interpretation methods to predict enzyme activity and assign pathogenicity in the CAGI4 NAGLU (Human N-acetyl-glucosaminidase) and UBE2I (Human SUMO-ligase) challenges.Assessing predictions of fitness effects of missense mutations in SUMO-conjugating enzyme UBE2I.A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures.Genomic insights into head and neck cancer.Prediction and interpretation of deleterious coding variants in terms of protein structural stability.Human muscle-specific A-kinase anchoring protein (mAKAP) polymorphisms modulate the susceptibility to cardiovascular diseases by altering cAMP/ PKA signaling.
P2860
Q21999498-193DABE3-35C9-41E5-8095-8FD8951ABA2EQ27002571-5752DB35-802E-4047-9E0F-8337161D7BFDQ28083054-ECAE279A-4B37-478E-A4F8-3ABD49B4ABA3Q30374341-07D878DB-AC02-4646-B864-2CEEDEF02138Q30381633-CEBD5F3C-7764-4CEB-95E3-A79B35817F45Q30387741-0D5C7885-2317-4DDD-B028-E9236503F917Q34621290-CCABB2D1-B65C-4E7A-B7DB-CB8A62E94570Q35251779-9D8FD591-18E8-42EC-AD6E-C53B301C1966Q35698989-A272A1EB-0A79-47B8-B13E-DE0F1CBDAFD5Q36309603-A72BEDC7-25D3-4163-9063-4F2E5265425CQ36325604-D122C26A-0BF4-47C5-834A-2D9D5E263256Q36483446-FAE708DB-5DCE-470B-A227-4D7DB48B5B46Q36770547-9733C158-EFC9-47B5-9965-2171A8B62C78Q37478237-411B79B4-B2EF-49B0-B611-57967397F1F1Q38378623-503F2B53-48DD-4D48-A26E-5520B19ED6EAQ38673851-16481C8A-8601-428E-B340-89F4E2B7548EQ38722204-9EC8C020-BAB7-4388-9A36-FA18F8C09F1EQ38764158-65AC93F3-4BA4-45D4-BD4A-195BA4D90A3BQ38787050-A816CCA1-3933-416C-854F-6F669723F0E4Q38946091-8A30D721-41C9-4AFF-BE7A-A9CC9438511BQ39755491-EFE516F7-B83B-4B62-B670-3463074A4232Q42288274-047D56CC-52EB-46C7-885C-81BE23AB8961Q42290127-E27247D8-6972-414C-9A05-789CB4E7ACA3Q42352597-96F4FCDB-916C-4C27-B490-CAED354BE387Q45943092-F6BDEBEF-80EB-4C8F-81F6-008CED5E5BFDQ46986461-B4939E54-C014-49F7-8876-9B4898BA551DQ47137446-1A8E386B-7DE2-43C9-86E9-2C396184072BQ47163312-664CFAA5-CF04-4406-912B-D4F59EE0A37BQ47830315-FC63BAC0-671C-4FB4-B9FC-6D798C816020Q48222762-0FECD6B5-4199-414E-8DF5-E45066A6270FQ50422133-80C9BAA9-B951-4AA7-8BF9-53B6C502151BQ50917827-C486F080-A664-449D-B4FB-E443A13569E9Q52355362-50F75DD1-F9CF-4C77-B625-E7D479EAA78CQ54981509-422A80EB-7833-4D21-80FA-431AAF0496A4
P2860
A formal perturbation equation between genotype and phenotype determines the Evolutionary Action of protein-coding variations on fitness.
description
2014 nî lūn-bûn
@nan
2014 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
A formal perturbation equation ...... -coding variations on fitness.
@en
A formal perturbation equation ...... -coding variations on fitness.
@nl
type
label
A formal perturbation equation ...... -coding variations on fitness.
@en
A formal perturbation equation ...... -coding variations on fitness.
@nl
prefLabel
A formal perturbation equation ...... -coding variations on fitness.
@en
A formal perturbation equation ...... -coding variations on fitness.
@nl
P2860
P356
P1433
P1476
A formal perturbation equation ...... -coding variations on fitness.
@en
P2093
Panagiotis Katsonis
P2860
P304
P356
10.1101/GR.176214.114
P577
2014-09-12T00:00:00Z