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PubPharm (202)
1
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes
enthalten in:
bioRxiv.org
| 2024
von
Goodrich, J.
|
Singer-Berk, M.
|
Son, R.
| +126
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2
Evidence-based calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for clinical use of PP3/BP4 criteria
enthalten in:
bioRxiv.org
| 2024
von
Pejaver, V.
|
Byrne, A.
|
Feng, B.
| +10
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3
Targeting
de novo
loss of function variants in constrained disease genes improves diagnostic rates in the 100,000 Genomes Project
enthalten in:
bioRxiv.org
| 2024
von
Seaby, E.
|
Thomas, N.
|
Webb, A.
| +6
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4
Phenotype and genetic analysis of data collected within the first year of NeuroDev
enthalten in:
bioRxiv.org
| 2024
von
Kipkemoi, P.
|
Kim, H.
|
Christ, B.
| +32
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5
Advanced variant classification framework reduces the false positive rate of predicted loss of function (pLoF) variants in population sequencing data
enthalten in:
bioRxiv.org
| 2024
von
Singer-Berk, M.
|
Gudmundsson, S.
|
Baxter, S.
| +10
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6
Inferring compound heterozygosity from large-scale exome sequencing data
enthalten in:
bioRxiv.org
| 2024
von
Guo, M.
|
Francioli, L.
|
Stenton, S.
| +16
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7
A gene pathogenicity tool ‘GenePy’ identifies missed biallelic diagnoses in the 100,000 Genomes Project
enthalten in:
bioRxiv.org
| 2024
von
Seaby, E.
|
Leggatt, G.
|
Cheng, G.
| +7
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8
Advancing Understanding of Inequities in Rare Disease Genomics
enthalten in:
bioRxiv.org
| 2024
von
Serrano, J.
|
O’Leary, M.
|
VanNoy, G.
| +5
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9
Rare penetrant mutations confer severe risk of common diseases
enthalten in:
bioRxiv.org
| 2024
von
Fiziev, P.
|
McRae, J.
|
Ulirsch, J.
| +18
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10
Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease
enthalten in:
bioRxiv.org
| 2024
von
Lemire, G.
|
Sanchis-Juan, A.
|
Russell, K.
| +61
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Acta neuropathologica
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