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Author Details
Full Name
James M Holt
Affiliation
ORCID
Career Start Year
2014
Papers
15
H Index
10
Expertise
CM4AI Collaborator
PMID
Paper Title
Journal Title
Published Year
37534744
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.
Genet Med
2023
36869750
Polishing De Novo Nanopore Assemblies of Bacteria and Eukaryotes With FMLRC2.
Mol Biol Evol
2023
33767343
Reducing Sanger confirmation testing through false positive prediction algorithms.
Genet Med
2021
33937879
Long-read genome sequencing for the molecular diagnosis of neurodevelopmental disorders.
HGG Adv
2021
32014855
Applying whole-genome sequencing in relation to phenotype and outcomes in siblings with cystic fibrosis.
Cold Spring Harb Mol Case Stud
2020
30740830
Kilquist syndrome: A novel syndromic hearing loss disorder caused by homozygous deletion of SLC12A2.
Hum Mutat
2019
31836585
Genome sequencing for early-onset or atypical dementia: high diagnostic yield and frequent observation of multiple contributory alleles.
Cold Spring Harb Mol Case Stud
2019
29426289
FMLRC: Hybrid long read error correction using an FM-index.
BMC Bioinformatics
2018
27765810
Whole Genome Sequence of Two Wild-Derived Mus musculus domesticus Inbred Strains, LEWES/EiJ and ZALENDE/EiJ, with Different Diploid Numbers.
G3 (Bethesda)
2016
26882987
R2d2 Drives Selfish Sweeps in the House Mouse.
Mol Biol Evol
2016
27371833
The Evolutionary Fates of a Large Segmental Duplication in Mouse.
Genetics
2016
26018903
Corrigendum: analyses of allele-specific gene expression in highly divergent mouse crosses identifies pervasive allelic imbalance.
Nat Genet
2015
25730764
Analyses of allele-specific gene expression in highly divergent mouse crosses identifies pervasive allelic imbalance.
Nat Genet
2015
25172922
Merging of multi-string BWTs with applications.
Bioinformatics
2014
24948510
A novel multi-alignment pipeline for high-throughput sequencing data.
Database (Oxford)
2014
1 - 15 of 15
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