TITINdb: A computational tool to assess titin's role as a disease gene

TY - JOUR

T1 - TITINdb

T2 - A computational tool to assess titin's role as a disease gene

AU - Laddach, Anna

AU - Gautel, Mathias

AU - Fraternali, Franca

PY - 2017/11/1

Y1 - 2017/11/1

N2 - Large numbers of rare and unique titin missense variants have been discovered in both healthy and disease cohorts, thus the correct classification of variants as pathogenic or non-pathogenic has become imperative. Due to titin's large size (363 coding exons), current web applications are unable to map titin variants to domain structures. Here, we present a web application, TITINdb, which integrates titin structure, variant, sequence and isoform information, along with pre-computed predictions of the impact of non-synonymous single nucleotide variants, to facilitate the correct classification of titin variants.

AB - Large numbers of rare and unique titin missense variants have been discovered in both healthy and disease cohorts, thus the correct classification of variants as pathogenic or non-pathogenic has become imperative. Due to titin's large size (363 coding exons), current web applications are unable to map titin variants to domain structures. Here, we present a web application, TITINdb, which integrates titin structure, variant, sequence and isoform information, along with pre-computed predictions of the impact of non-synonymous single nucleotide variants, to facilitate the correct classification of titin variants.

U2 - 10.1093/bioinformatics/btx424

DO - 10.1093/bioinformatics/btx424

M3 - Article

SN - 1367-4803

VL - 33

SP - 3482

EP - 3485

JO - BIOINFORMATICS

JF - BIOINFORMATICS

IS - 21

ER -