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13
|
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Long-read transcriptome analysis using IsoRanker for identifying pathogenic variants in Mendelian conditions.
(linkinghub.elsevier.com)
|
Cheng YH
…
Stergachis AB
American Journal of Human Genetics
2026-08-25
|
#transcriptomics
#sequencing
#variants
#mendelian
#isoforms
|
|
6
|
|
SNPannotator: Automated Functional Annotation of Genetic Variants and Linked Proxies.
(academic.oup.com)
|
Ani A
…
Vaez A
Bioinformatics
2026-08-24
|
#genome-wide association
#annotation
#variants
#eqtl
#bioinformatics
|
|
4
|
|
Shared genetic basis and structure of syndromic and normal facial variation.
(linkinghub.elsevier.com)
|
Aponte JD
…
Hallgrimsson B
American Journal of Human Genetics
2026-08-21
|
#morphology
#genetics
#syndromic
#variants
#phenotype
|
|
4
|
|
An Icelandic pangenome reference.
(nature.com)
|
Holley G
…
Halldorsson BV
Nature
2026-08-19
|
#pangenome
#sequencing
#variants
#haplotypes
#association
|
|
2
|
|
Rare variant effect estimation and polygenic risk prediction.
(nature.com)
|
Nam K
…
Lee S
Nature Genetics
2026-08-17
|
#polygenic
#sequencing
#heritability
#variants
#prediction
|
|
2
|
|
Identification and Masking of Artefactual and Misleading Within-Host Variants in Deep-Sequencing SARS-CoV-2 Data.
(academic.oup.com)
|
Anker KM
…
Lythgoe K
Molecular Biology and Evolution
2026-08-18
|
#sequencing
#variants
#covid-19
#diversity
|
|
1
|
|
Massively parallel characterization of adolescent idiopathic scoliosis risk variants.
(genome.cshlp.org)
|
Ramkhalawan D
…
Makki N
Genome Research
2026-08-17
|
#scoliosis
#genome-wide association
#regulatory
#variants
#cartilage
|
|
1
|
|
Magic or realism?
(science.org)
|
Piller C
…
Smith JE
Science
2026-08-13
|
#neurodegeneration
#genetics
#variants
#neuroprotection
|
|
0
|
|
The pseudouridine synthase PUSL1 modifies U39 of mitochondrial tRNAs and is linked to human neurological phenotypes.
(academic.oup.com)
|
Rebelo-Guiomar P
…
Minczuk M
Nucleic Acids Research
2026-08-10
|
#mitochondrial
#rna
#pseudouridylation
#neurological
#variants
|
|
0
|
|
A complete diploid human genome benchmark for personalized genomics.
(linkinghub.elsevier.com)
|
Hansen NF
…
Phillippy AM
Cell
2026-08-06
|
#sequencing
#assembly
#variants
#personalized medicine
|
|
0
|
|
SIMLINK Enables Accurate Variant Pathogenicity Prediction through Modeling the Gene-Variant-Feature Association Structure.
(academic.oup.com)
|
Li HD
…
Wang S
Bioinformatics
2026-08-10
|
#pathogenicity
#variants
#prediction
#genetics
#machine learning
|
|
0
|
|
Rapid resolution of variants of uncertain significance (VUS). A complementary role for zebrafish in the era of multi-million-dollar therapies.
(nature.com)
|
Giacomotto J
npj Genomic Medicine
2026-08-10
|
#variants
#pathogenicity
#precision medicine
#gene therapy
|
|
0
|
|
Functional and structural basis of Omicron BA.3.2.1 spike.
(linkinghub.elsevier.com)
|
Wang Y
…
Xie X
Cell Reports
2026-08-08
|
#variants
#cryo-em
#neutralization
#spike
#immune evasion
|
|
0
|
|
Long-read low-pass sequencing enhances variant detection in a peanut MAGIC population.
(academic.oup.com)
|
Lee K
…
Clevenger J
G3: Genes, Genomes, Genetics
2026-08-05
|
#sequencing
#variants
#breeding
#pangenome
#genomics
|
|
0
|
|
Variant characterization in the intrinsically disordered human proteome.
(nature.com)
|
Hubrich D
…
Luck K
Nature Structural & Molecular Biology
2026-07-31
|
#proteomics
#variants
#prediction
#precision medicine
|
|
0
|
|
Sequence effects on mutation rates investigated in whole-genome sequenced UK Biobank participants.
(academic.oup.com)
|
Curtis D
G3: Genes, Genomes, Genetics
2026-07-29
|
#sequencing
#mutation
#genomics
#variants
|
|
0
|
|
Durability and Breadth of Neutralizing Antibodies Against SARS-CoV-2 Variants Following XBB.1.5 Vaccination in a Multiply Exposed Cohort.
(academic.oup.com)
|
Wang W
…
Weiss CD
Open Forum Infectious Diseases
2026-08-01
|
#immunity
#vaccination
#antibody
#covid-19
#variants
|