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[HTML][HTML] A 25-year odyssey of genomic technology advances and structural variant discovery
D Porubsky, EE Eichler - Cell, 2024 - cell.com
This perspective focuses on advances in genome technology over the last 25 years and
their impact on germline variant discovery within the field of human genetics. The field has …
their impact on germline variant discovery within the field of human genetics. The field has …
Precision medicine in rare diseases: What is next?
Molecular diagnostics is a cornerstone of modern precision medicine, broadly understood
as tailoring an individual's treatment, follow‐up, and care based on molecular data. In rare …
as tailoring an individual's treatment, follow‐up, and care based on molecular data. In rare …
[HTML][HTML] Inverted triplications formed by iterative template switches generate structural variant diversity at genomic disorder loci
The duplication-triplication/inverted-duplication (DUP-TRP/INV-DUP) structure is a complex
genomic rearrangement (CGR). Although it has been identified as an important pathogenic …
genomic rearrangement (CGR). Although it has been identified as an important pathogenic …
Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders
Variant detection from long-read genome sequencing (lrGS) has proven to be more accurate
and comprehensive than variant detection from short-read genome sequencing (srGS) …
and comprehensive than variant detection from short-read genome sequencing (srGS) …
Cost-effectiveness of whole-genome vs whole-exome sequencing among children with suspected genetic disorders
Importance The diagnosis of rare diseases and other genetic conditions can be daunting
due to vague or poorly defined clinical features that are not recognized even by experienced …
due to vague or poorly defined clinical features that are not recognized even by experienced …
Chromosomal instability in genome evolution: From cancer to macroevolution
Simple Summary The experimental/pathological observation of genome chaos (including
massive and large-scale translocations, chromothripsis, and polyploidy cancer cells) …
massive and large-scale translocations, chromothripsis, and polyploidy cancer cells) …
Truvari: refined structural variant comparison preserves allelic diversity
The fundamental challenge of multi-sample structural variant (SV) analysis such as merging
and benchmarking is identifying when two SVs are the same. Common approaches for …
and benchmarking is identifying when two SVs are the same. Common approaches for …
Resolving complex duplication variants in autism spectrum disorder using long-read genome sequencing
J Eisfeldt, EJ Higginbotham, F Lenner, J Howe… - Genome …, 2024 - genome.cshlp.org
Rare or de novo structural variation, primarily in the form of copy number variants, is
detected in 5%–10% of autism spectrum disorder (ASD) families. While complex structural …
detected in 5%–10% of autism spectrum disorder (ASD) families. While complex structural …
[HTML][HTML] Real-world diagnostic outcomes and cost-effectiveness of genome-wide sequencing for developmental and seizure disorders: evidence from Canada
Purpose To determine real-world diagnostic rates, cost trajectories, and cost-effectiveness of
exome sequencing (ES) and genome sequencing (GS) for children with developmental …
exome sequencing (ES) and genome sequencing (GS) for children with developmental …
Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression
Abstract Background MECP2 Duplication Syndrome, also known as X-linked intellectual
developmental disorder Lubs type (MRXSL; MIM: 300260), is a neurodevelopmental …
developmental disorder Lubs type (MRXSL; MIM: 300260), is a neurodevelopmental …