[HTML][HTML] Combining genetic constraint with predictions of alternative splicing to prioritize deleterious splicing in rare disease studies
MJ Cormier, BS Pedersen, P Bayrak-Toydemir… - BMC …, 2022 - Springer
Background Despite numerous molecular and computational advances, roughly half of
patients with a rare disease remain undiagnosed after exome or genome sequencing. A …
patients with a rare disease remain undiagnosed after exome or genome sequencing. A …
Combining genetic constraint with predictions of alternative splicing to prioritize deleterious splicing in rare disease studies.
MJ Cormier, BS Pedersen, P Bayrak-Toydemir… - BMC …, 2022 - europepmc.org
Despite numerous molecular and computational advances, roughly half of patients with a
rare disease remain undiagnosed after exome or genome sequencing. A particularly …
rare disease remain undiagnosed after exome or genome sequencing. A particularly …
Combining genetic constraint with predictions of alternative splicing to prioritize deleterious splicing in rare disease studies
MJ Cormier, BS Pedersen, P Bayrak-Toydemir… - BMC …, 2022 - cir.nii.ac.jp
抄録< jats: title> Abstract</jats: title>< jats: sec>< jats: title> Background</jats: title>< jats: p>
Despite numerous molecular and computational advances, roughly half of patients with a …
Despite numerous molecular and computational advances, roughly half of patients with a …
[PDF][PDF] Combining genetic constraint with predictions of alternative splicing to prioritize deleterious splicing in rare disease studies
MJ Cormier, BS Pedersen, P Bayrak-Toydemir… - scholar.archive.org
Background Despite numerous molecular and computational advances, roughly half of
patients with a rare disease remain undiagnosed after exome or genome sequencing. A …
patients with a rare disease remain undiagnosed after exome or genome sequencing. A …
Combining genetic constraint with predictions of alternative splicing to prioritize deleterious splicing in rare disease studies
MJ Cormier, BS Pedersen, P Bayrak-Toydemir… - 2022 - agris.fao.org
Background Despite numerous molecular and computational advances, roughly half of
patients with a rare disease remain undiagnosed after exome or genome sequencing. A …
patients with a rare disease remain undiagnosed after exome or genome sequencing. A …
Combining genetic constraint with predictions of alternative splicing to prioritize deleterious splicing in rare disease studies.
MJ Cormier, BS Pedersen… - BMC …, 2022 - search.ebscohost.com
Background: Despite numerous molecular and computational advances, roughly half of
patients with a rare disease remain undiagnosed after exome or genome sequencing. A …
patients with a rare disease remain undiagnosed after exome or genome sequencing. A …
Combining genetic constraint with predictions of alternative splicing to prioritize deleterious splicing in rare disease studies
MJ Cormier, BS Pedersen… - BMC …, 2022 - search.proquest.com
Background Despite numerous molecular and computational advances, roughly half of
patients with a rare disease remain undiagnosed after exome or genome sequencing. A …
patients with a rare disease remain undiagnosed after exome or genome sequencing. A …
[HTML][HTML] Combining genetic constraint with predictions of alternative splicing to prioritize deleterious splicing in rare disease studies
MJ Cormier, BS Pedersen… - BMC …, 2022 - bmcbioinformatics.biomedcentral …
Despite numerous molecular and computational advances, roughly half of patients with a
rare disease remain undiagnosed after exome or genome sequencing. A particularly …
rare disease remain undiagnosed after exome or genome sequencing. A particularly …
Combining genetic constraint with predictions of alternative splicing to prioritize deleterious splicing in rare disease studies
MJ Cormier, BS Pedersen, P Bayrak-Toydemir… - bioRxiv, 2022 - biorxiv.org
Background Despite numerous molecular and computational advances, roughly half of
patients with a rare disease remain undiagnosed after exome or genome sequencing. A …
patients with a rare disease remain undiagnosed after exome or genome sequencing. A …
Combining genetic constraint with predictions of alternative splicing to prioritize deleterious splicing in rare disease studies
MJ Cormier, BS Pedersen… - BMC …, 2022 - pubmed.ncbi.nlm.nih.gov
Background Despite numerous molecular and computational advances, roughly half of
patients with a rare disease remain undiagnosed after exome or genome sequencing. A …
patients with a rare disease remain undiagnosed after exome or genome sequencing. A …