Back to search

Article

The Human Intolerome: a curated database to prioritize genomic variants in stillbirth, pregnancy loss, and neonatal death

2025-10-09

Abstract excerpt

<h4>Background</h4> The application of next-generation sequencing in prenatal and neonatal genomic medicine provides definite diagnosis, impacts clinical decision-making and reproductive planning. Despite recent advances, interpretation of variants identified by genome/exome sequencing in cases lacking obvious phenotypic abnormalities (stillbirth, miscarriage, neonatal death) remains challenging. <h4>Methods</h4>...

Topics

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

Identifiers and source

Literature Corpus work
5b1c087b-3996-54d5-b9f7-92b4cfd7c003
DOI
10.1101/2025.10.08.25336895
Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest
Interactive article relationship graphSelect a related publication card to move it into the centre and load its closest explainable connections. Solid lines are source-backed structured connections. Dashed lines are semantic discovery signals and are not scientific evidence.
The Human Intolerome: a curated database to prioritize genomic variants in stillbirth, pregnancy loss, and neonatal deathDOI 10.1101/2025.10.08.25336895
The Human Intolerome: A curated database to prioritize genomic variants in stillbirth, pregnancy loss, and neonatal death.Semantic proximity
Whole-genome sequencing analysis in families with recurrent pregnancy loss: A pilot studySemantic proximity
A genomic autopsy identifies causes of perinatal death and provides options to prevent recurrenceSemantic proximity
Whole-exome sequencing analysis on products of conception: A cohort study to evaluate clinical utility and genetic etiology for pregnancy lossSemantic proximity
Preconception Genetic Carrier Screening for Miscarriage Risk Assessment: A Bioinformatic Approach to Identifying Candidate Lethal Genes and VariantsSemantic proximity
Advancing precision care in pregnancy through an actionable fetal findings listSemantic proximity
Miscarriage risk assessment: a bioinformatic approach to identifying candidate lethal genes and variantsSemantic proximity
Genetics and Stillbirth.Semantic proximity
Whole-genome sequencing analysis in families with recurrent pregnancy loss: A pilot studySemantic proximity
Genetic Variants in Recurrent Euploid Pregnancy LossSemantic proximity
Genomic autopsy to identify underlying causes of pregnancy loss and perinatal deathSemantic proximity
Genomic Insights into StillbirthSemantic proximity
Select a neighboring publication to make it the new centre.