Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing
Solve-RD is a pan-European rare disease (RD) research program that aims to identify
disease-causing genetic variants in previously undiagnosed RD families. We utilized 10-fold …
disease-causing genetic variants in previously undiagnosed RD families. We utilized 10-fold …
[HTML][HTML] Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders
SM Hiatt, JMJ Lawlor, LH Handley, DR Latner… - medRxiv, 2024 - ncbi.nlm.nih.gov
Variant detection from long-read genome sequencing (lrGS) has proven to be considerably
more accurate and comprehensive than variant detection from short-read genome …
more accurate and comprehensive than variant detection from short-read genome …
Solving unsolved rare neurological diseases—a Solve-RD viewpoint
R Schüle, D Timmann, CE Erasmus… - European Journal of …, 2021 - nature.com
Rare genetic neurological disorders (RND; ORPHA: 71859) are a heterogeneous group of
disorders comprising> 1700 distinct genetic disease entities. However, genetic discoveries …
disorders comprising> 1700 distinct genetic disease entities. However, genetic discoveries …
Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis
Background Causal variants underlying rare disorders may remain elusive even after
expansive gene panels or exome sequencing (ES). Clinicians and researchers may then …
expansive gene panels or exome sequencing (ES). Clinicians and researchers may then …
Comprehensive de novo mutation discovery with HiFi long-read sequencing
E Kucuk, BPGH van der Sanden, L O'Gorman… - Genome Medicine, 2023 - Springer
Background Long-read sequencing (LRS) techniques have been very successful in
identifying structural variants (SVs). However, the high error rate of LRS made the detection …
identifying structural variants (SVs). However, the high error rate of LRS made the detection …
[HTML][HTML] Genomic answers for children: Dynamic analyses of> 1000 pediatric rare disease genomes
Purpose This study aimed to provide comprehensive diagnostic and candidate analyses in a
pediatric rare disease cohort through the Genomic Answers for Kids program. Methods …
pediatric rare disease cohort through the Genomic Answers for Kids program. Methods …
Targeted long-read sequencing resolves complex structural variants and identifies missing disease-causing variants
ABSTRACT BACKGROUND Despite widespread availability of clinical genetic testing, many
individuals with suspected genetic conditions do not have a precise diagnosis. This limits …
individuals with suspected genetic conditions do not have a precise diagnosis. This limits …
Gaps in the phenotype descriptions of ultra-rare genetic conditions: review and multi-center consensus reporting guidelines
A AlMail, A Jamjoom, A Pan, MY Feng, V Chau… - medRxiv, 2023 - medrxiv.org
Background: Genome-wide sequencing and genetic matchmaker services are propelling a
new era of genotype-first ascertainment of novel genetic conditions. The degree to which …
new era of genotype-first ascertainment of novel genetic conditions. The degree to which …
Deciphering the role of germline complex de novo structural variations in rare disorders
H Jung, TP Yang, S Walker, P Danecek, IG Salinas… - bioRxiv, 2024 - biorxiv.org
De novo structural variants (dnSVs) have emerged as crucial genetic factors in the context of
rare disorders. However, these variations often go undiagnosed in routine genetic screening …
rare disorders. However, these variations often go undiagnosed in routine genetic screening …
Editorial–Diagnostic genome sequencing in rare disorders
About 8,000 rare diseases (RDs) are currently known. Although rare by definition
(prevalence of 1: 2,000 in the European population), they collectively constitute a major …
(prevalence of 1: 2,000 in the European population), they collectively constitute a major …