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Author Details

James M Holt
2014
15
10
PMIDPaper TitleJournal TitlePublished Year
37534744The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.Genet Med2023
36869750Polishing De Novo Nanopore Assemblies of Bacteria and Eukaryotes With FMLRC2.Mol Biol Evol2023
33767343Reducing Sanger confirmation testing through false positive prediction algorithms.Genet Med2021
33937879Long-read genome sequencing for the molecular diagnosis of neurodevelopmental disorders.HGG Adv2021
32014855Applying whole-genome sequencing in relation to phenotype and outcomes in siblings with cystic fibrosis.Cold Spring Harb Mol Case Stud2020
30740830Kilquist syndrome: A novel syndromic hearing loss disorder caused by homozygous deletion of SLC12A2.Hum Mutat2019
31836585Genome sequencing for early-onset or atypical dementia: high diagnostic yield and frequent observation of multiple contributory alleles.Cold Spring Harb Mol Case Stud2019
29426289FMLRC: Hybrid long read error correction using an FM-index.BMC Bioinformatics2018
27765810Whole Genome Sequence of Two Wild-Derived Mus musculus domesticus Inbred Strains, LEWES/EiJ and ZALENDE/EiJ, with Different Diploid Numbers.G3 (Bethesda)2016
26882987R2d2 Drives Selfish Sweeps in the House Mouse.Mol Biol Evol2016
27371833The Evolutionary Fates of a Large Segmental Duplication in Mouse.Genetics2016
26018903Corrigendum: analyses of allele-specific gene expression in highly divergent mouse crosses identifies pervasive allelic imbalance.Nat Genet2015
25730764Analyses of allele-specific gene expression in highly divergent mouse crosses identifies pervasive allelic imbalance.Nat Genet2015
25172922Merging of multi-string BWTs with applications.Bioinformatics2014
24948510A novel multi-alignment pipeline for high-throughput sequencing data.Database (Oxford)2014
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