JMIR Bioinformatics and Biotechnology, 2021 Background Alagille syndrome is an autosomal dominant disorder associated with variable clinical phenotypic features including cholestasis, congenital heart defects, vertebral defects, and dysmorphic facies.
Deepak Panwar, Vandana Lal, Atul Thatai
semanticscholar +1 more source
Development and Validation of Clinical Whole-Exome and Whole-Genome Sequencing for Detection of Germline Variants in Inherited Disease [PDF]
, 2017 Context.-With the decrease in the cost of sequencing, the clinical testing paradigm has shifted from single gene to gene panel and now whole-exome and whole-genome sequencing.
Ferreira-Gonzalez, Andrea +5 more
core +3 more sources
The Role and Challenges of Exome Sequencing in Studies of Human Diseases
Frontiers in Genetics, 2013 Recent advances in next-generation sequencing (NGS) technologies have transformed the genetics study of human diseases; this is an era of unprecedented productivity.
Zuoheng eWang +5 more
doaj +1 more source
Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data
npj Genomic Medicine, 2022 Exome sequencing is utilized in routine clinical genetic diagnosis. The technical robustness of repurposing large-scale next-generation sequencing data for pharmacogenetics has been demonstrated, supporting the implementation of preemptive ...
Javier Lanillos +4 more
doaj +1 more source
Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation. [PDF]
, 2016 Genomic sequence interpretation can miss clinically relevant missense variants for several reasons. Rare missense variants are numerous in the exome and difficult to prioritise. Affected genes may also not have existing disease association.
Dumas, Kevin +13 more
core +2 more sources
Detection of Somatic Copy Number Alterations in Cancer Using Targeted Exome Capture Sequencing
Neoplasia: An International Journal for Oncology Research, 2011 The research community at large is expending considerable resources to sequence the coding region of the genomes of tumors and other human diseases using targeted exome capture (i.e., “whole exome sequencing”).
Robert J. Lonigro +9 more
doaj +1 more source
Diagnostic value of partial exome sequencing in developmental disorders. [PDF]
PLoS ONE, 2018 Although intellectual disability is one of the major indications for genetic counselling, there are no homogenous diagnostic algorithms for molecular testing. While whole exome sequencing is increasingly applied, we questioned whether analyzing a partial
Laura Gieldon +19 more
doaj +1 more source
SavvyCNV: Genome-wide CNV calling from off-target reads.
PLoS Computational Biology, 2022 Identifying copy number variants (CNVs) can provide diagnoses to patients and provide important biological insights into human health and disease. Current exome and targeted sequencing approaches cannot detect clinically and biologically-relevant CNVs ...
Thomas W Laver +7 more
doaj +1 more source
De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development [PDF]
, 2017 Bosma arhinia microphthalmia syndrome (BAMS) is an extremely rare and striking condition characterized by complete absence of the nose with or without ocular defects.
A Javed +97 more
core +3 more sources
BMC Genomics, 2012 Background Protein-coding regions in human genes harbor 85% of the mutations that are associated with disease-related traits. Compared with whole-genome sequencing of complex samples, exome sequencing serves as an alternative option because of its ...
Liu Qi +7 more
doaj +1 more source