Cipriani V, Vestito L, Magavern E, Jacobsen J, Arno G, Behr E
Nature. 2025; .
PMID: 40011789
DOI: 10.1038/s41586-025-08623-w.
Lin S, Arno G, Robson A, Schiff E, Mohamed M, Michaelides M
Eye (Lond). 2024; .
PMID: 39632990
DOI: 10.1038/s41433-024-03522-2.
Frost A, Kelly A, Bishop M, Bogue D, Copson E, Gompertz L
BMC Med Educ. 2024; 24(1):1378.
PMID: 39593035
PMC: 11600734.
DOI: 10.1186/s12909-024-06059-w.
Fanfani V, Shutta K, Mandros P, Fischer J, Saha E, Micheletti S
bioRxiv. 2024; .
PMID: 39574772
PMC: 11580957.
DOI: 10.1101/2024.11.05.622163.
Huang Q, Wigdor E, Malawsky D, Campbell P, Samocha K, Chundru V
Nature. 2024; 636(8042):404-411.
PMID: 39567701
PMC: 11634775.
DOI: 10.1038/s41586-024-08217-y.
Building a pangenome alignment index via recursive prefix-free parsing.
Ferro E, Oliva M, Gagie T, Boucher C
iScience. 2024; 27(10):110933.
PMID: 39391725
PMC: 11465122.
DOI: 10.1016/j.isci.2024.110933.
The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism.
Green D, Michaud V, Lasseaux E, Plaisant C, Fitzgerald T, Birney E
Nat Commun. 2024; 15(1):8436.
PMID: 39349469
PMC: 11443028.
DOI: 10.1038/s41467-024-52763-y.
Diagnosis and Early Management of Robin Sequence.
Rickart A, Sikdar O, Jenkinson A, Greenough A
Children (Basel). 2024; 11(9).
PMID: 39334626
PMC: 11430236.
DOI: 10.3390/children11091094.
A systematic evaluation of the performance and properties of the UK Biobank Polygenic Risk Score (PRS) Release.
Thompson D, Wells D, Selzam S, Peneva I, Moore R, Sharp K
PLoS One. 2024; 19(9):e0307270.
PMID: 39292644
PMC: 11410272.
DOI: 10.1371/journal.pone.0307270.
Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome.
Falabella M, Pizzamiglio C, Tabara L, Munro B, Abdel-Hamid M, Sonmezler E
Brain. 2024; 148(2):647-662.
PMID: 39279645
PMC: 11788212.
DOI: 10.1093/brain/awae268.
Dual diagnosis of achondroplasia and mandibulofacial dysostosis with microcephaly.
Lyulcheva-Bennett E, Kershaw C, Baker E, Gillies S, McCarthy E, Higgs J
BMC Med Genomics. 2024; 17(1):226.
PMID: 39243045
PMC: 11378366.
DOI: 10.1186/s12920-024-01999-0.
Extensive identification of genes involved in congenital and structural heart disorders and cardiomyopathy.
Spielmann N, Miller G, Oprea T, Hsu C, Fobo G, Frishman G
Nat Cardiovasc Res. 2024; 1(2):157-173.
PMID: 39195995
PMC: 11358025.
DOI: 10.1038/s44161-022-00018-8.
The genomic landscape of 2,023 colorectal cancers.
Cornish A, Gruber A, Kinnersley B, Chubb D, Frangou A, Caravagna G
Nature. 2024; 633(8028):127-136.
PMID: 39112709
PMC: 11374690.
DOI: 10.1038/s41586-024-07747-9.
A general and efficient representation of ancestral recombination graphs.
Wong Y, Ignatieva A, Koskela J, Gorjanc G, Wohns A, Kelleher J
Genetics. 2024; 228(1).
PMID: 39013109
PMC: 11373519.
DOI: 10.1093/genetics/iyae100.
Whole genome sequencing refines stratification and therapy of patients with clear cell renal cell carcinoma.
Culliford R, Lawrence S, Mills C, Tippu Z, Chubb D, Cornish A
Nat Commun. 2024; 15(1):5935.
PMID: 39009593
PMC: 11250826.
DOI: 10.1038/s41467-024-49692-1.
Homopolymer switches mediate adaptive mutability in mismatch repair-deficient colorectal cancer.
Kayhanian H, Cross W, van der Horst S, Barmpoutis P, Lakatos E, Caravagna G
Nat Genet. 2024; 56(7):1420-1433.
PMID: 38956208
PMC: 11250277.
DOI: 10.1038/s41588-024-01777-9.
Identification of a Novel Frameshift Variant in Leading to External Ophthalmoplegia with Rib and Vertebral Anomalies.
Ocieczek P, Oluonye N, Mejecase C, Schiff E, Tailor V, Moosajee M
Genes (Basel). 2024; 15(6).
PMID: 38927634
PMC: 11202668.
DOI: 10.3390/genes15060699.
Analysis-ready VCF at Biobank scale using Zarr.
Czech E, Millar T, Tyler W, White T, Elsworth B, Guez J
bioRxiv. 2024; .
PMID: 38915693
PMC: 11195102.
DOI: 10.1101/2024.06.11.598241.
A survey of BWT variants for string collections.
Cenzato D, Liptak Z
Bioinformatics. 2024; .
PMID: 38788221
PMC: 11286279.
DOI: 10.1093/bioinformatics/btae333.
The impact of inversions across 33,924 families with rare disease from a national genome sequencing project.
Pagnamenta A, Yu J, Walker S, Noble A, Lord J, Dutta P
Am J Hum Genet. 2024; 111(6):1140-1164.
PMID: 38776926
PMC: 11179413.
DOI: 10.1016/j.ajhg.2024.04.018.