Article

<i>In vivo</i> versus <i>in silico</i> assessment of potentially pathogenic missense variants in human reproductive genes

2021-10-12

Abstract excerpt

Infertility is a heterogeneous condition, with genetic causes estimated to be involved in approximately half of the cases. High-throughput sequencing (HTS) is becoming an increasingly important tool for genetic diagnosis of diseases including idiopathic infertility, however, most rare or minor alleles revealed by HTS are variants of uncertain significance (VUS). Interpreting the functional impacts of VUS is challe...

Topics

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

Identifiers and source

Literature Corpus work: fce64067-238d-59d3-bc91-89baebe7fbe5
DOI: 10.1101/2021.10.12.464112

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

<i>In vivo</i> versus <i>in silico</i> assessment of potentially pathogenic missense variants in human reproductive genesDOI 10.1101/2021.10.12.464112Read

In vivo versus in silico assessment of potentially pathogenic missense variants in human reproductive genes.Semantic proximity Read

A predicted deleterious allele of the essential meiosis gene <i>MND1</i> , present in ~3% of East Asians, does not disrupt reproduction in miceSemantic proximity Read

Systematic benchmarking of 32 in silico tools for pathogenicity prediction of missense variants in genes associated with female infertility and differences in sex developmentSemantic proximity Read

A <i>de novo</i> paradigm for male infertilitySemantic proximity Read

The genetics of human infertility by functional interrogation of SNPs in mice.Semantic proximity Read

A de novo paradigm for male infertility.Semantic proximity Read

A de novo paradigm for male infertilitySemantic proximity Read

Identification of potentially damaging amino acid substitutions leading to human male infertility.Semantic proximity Read

<i>HSP90AA1</i> variants may contribute to autosomal dominant human male infertilitySemantic proximity Read

Improved detection of disease-associated variation by sex-specific characterization and prediction of genes required for fertility.Semantic proximity Read

A framework for high-resolution phenotyping of candidate male infertility mutants: from human to mouse.Semantic proximity Read

Creation of knock out and knock in mice by CRISPR/Cas9 to validate candidate genes for human male infertility, interest, difficulties and feasibility.Semantic proximity Read