[HTML][HTML] Benchmarking splice variant prediction algorithms using massively parallel splicing assays

C Smith, JO Kitzman - Genome Biology, 2023 - Springer
Background Variants that disrupt mRNA splicing account for a sizable fraction of the
pathogenic burden in many genetic disorders, but identifying splice-disruptive variants …

[HTML][HTML] Benchmarking splice variant prediction algorithms using massively parallel splicing assays

C Smith, JO Kitzman - Genome Biology, 2023 - ncbi.nlm.nih.gov
Background Variants that disrupt mRNA splicing account for a sizable fraction of the
pathogenic burden in many genetic disorders, but identifying splice-disruptive variants …

Benchmarking splice variant prediction algorithms using massively parallel splicing assays

C Smith, JO Kitzman - bioRxiv: the preprint server for …, 2023 - pubmed.ncbi.nlm.nih.gov
Background Variants that disrupt mRNA splicing account for a sizable fraction of the
pathogenic burden in many genetic disorders, but identifying splice-disruptive variants …

Benchmarking splice variant prediction algorithms using massively parallel splicing assays

C Smith, JO Kitzman - bioRxiv, 2023 - biorxiv.org
Background Variants that disrupt mRNA splicing account for a sizable fraction of the
pathogenic burden in many genetic disorders, but identifying splice-disruptive variants …

Benchmarking splice variant prediction algorithms using massively parallel splicing assays.

C Smith, JO Kitzman - Biorxiv: the Preprint Server for Biology, 2023 - europepmc.org
Background Variants that disrupt mRNA splicing account for a sizable fraction of the
pathogenic burden in many genetic disorders, but identifying splice-disruptive variants …

[HTML][HTML] Benchmarking splice variant prediction algorithms using massively parallel splicing assays

C Smith, JO Kitzman - Genome Biology, 2023 - genomebiology.biomedcentral.com
Variants that disrupt mRNA splicing account for a sizable fraction of the pathogenic burden
in many genetic disorders, but identifying splice-disruptive variants (SDVs) beyond the …

Benchmarking splice variant prediction algorithms using massively parallel splicing assays

C Smith, JO Kitzman - Genome Biology, 2023 - search.proquest.com
Background Variants that disrupt mRNA splicing account for a sizable fraction of the
pathogenic burden in many genetic disorders, but identifying splice-disruptive variants …

Benchmarking splice variant prediction algorithms using massively parallel splicing assays.

C Smith, JO Kitzman - Genome Biology, 2023 - go.gale.com
Background Variants that disrupt mRNA splicing account for a sizable fraction of the
pathogenic burden in many genetic disorders, but identifying splice-disruptive variants …

Benchmarking splice variant prediction algorithms using massively parallel splicing assays.

C Smith, JO Kitzman - Genome Biology, 2023 - europepmc.org
Background Variants that disrupt mRNA splicing account for a sizable fraction of the
pathogenic burden in many genetic disorders, but identifying splice-disruptive variants …

Benchmarking splice variant prediction algorithms using massively parallel splicing assays

C Smith, JO Kitzman - Genome biology, 2023 - pubmed.ncbi.nlm.nih.gov
Background Variants that disrupt mRNA splicing account for a sizable fraction of the
pathogenic burden in many genetic disorders, but identifying splice-disruptive variants …