Article

Opportunities and Challenges for Interpreting Rare Variation in Clinically Important Genes

2020-11-23

Abstract excerpt

Genome sequencing is enabling precision medicine—tailoring treatment to the unique constellation of variants in an individual’s genome. The impact of recurrent pathogenic variants is often understood, leaving a long tail of rare genetic variants that are uncharacterized. The problem of uncharacterized rare variation is especially acute when it occurs in genes of known clinical importance with functiona...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 35b7a9c9-9bc2-597b-b7e9-e2b7b4d98a3e
DOI: 10.20944/preprints202011.0599.v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Opportunities and Challenges for Interpreting Rare Variation in Clinically Important GenesDOI 10.20944/preprints202011.0599.v1Read

Opportunities and challenges for the computational interpretation of rare variation in clinically important genes.Semantic proximity Read

Predicting molecular events underlying rare diseases using variant annotation, aberrant gene expression events, and human phenotype ontologySemantic proximity Read

Long-term Penetrance of Disease Variants in Genes Prioritized for Genomic Newborn Screening: Evidence from Adult BiobanksSemantic proximity Read

Variants of uncertain significance in newborn screening disorders: implications for large-scale genomic sequencing.Semantic proximity Read

Hypothesis-free phenotype prediction within a genetics-first frameworkSemantic proximity Read

Translating transcriptomics analysis into diagnostic workflows: clinical variant identification and interpretation in hypothesis-driven and hypothesis-free approaches.Semantic proximity Read

Positive predictive value highlights four novel candidates for actionable genetic screening from analysis of 220,000 clinicogenomic records.Semantic proximity Read

A curated gene list for reporting results of newborn genomic sequencing.Semantic proximity Read

Biochemical Testing Promotes Interpretation of Variants of Uncertain Significance in Prenatal Genetic Disease Testing in Four Organic Acidurias.Semantic proximity Read

ClinVar and HGMD genomic variant classification accuracy has improved over time, as measured by implied disease burdenSemantic proximity Read

Machine Learning Approaches for the Prioritization of Genomic Variants Impacting Pre-mRNA SplicingSemantic proximity Read

Reproductive genetic carrier screening and inborn errors of metabolism: The voice of the inborn errors of metabolism community needs to be heard.Semantic proximity Read