|
0
|
|
Analysis of 173,303 exomes and genomes in the Pakistan Genome Resource.
(nature.com)
|
Koch C
…
Saleheen D
Nature
2026-06-17
|
#sequencing
#variants
#biobank
#population
#pharmacogenomics
|
|
0
|
|
Aardvark: sifting through differences in a mound of variants.
(link.springer.com)
|
Holt JM
…
Kronenberg Z
Genome Biology
2026-06-18
|
#sequencing
#variants
#benchmarking
#structural variation
|
|
0
|
|
Advances and challenges of splicing prediction with AI.
(nature.com)
|
Shen N
…
Liu C
Nature Genetics
2026-06-25
|
#splicing
#prediction
#machine learning
#rna
#variants
|
|
0
|
|
Thick filament molecular interfaces play a critical role in the pathogenesis of hypertrophic cardiomyopathy.
(pnas.org)
|
Dutta D
…
Padron R
PNAS
2026-06-29
|
#cardiomyopathy
#structural biology
#protein-interactions
#variants
#cryo-em
|
|
0
|
|
Likelihood-based optimization enables accurate copy number estimation for paralogous genes using exome data.
(academic.oup.com)
|
Byun SY
…
Bansal V
Bioinformatics
2026-07-01
|
#sequencing
#copy_number_variation
#exome
#computational methods
#variants
|
|
0
|
|
ClairS: a deep-learning method for long-read tumor-normal pair somatic small variant calling.
(nature.com)
|
Zheng Z
…
Luo R
Nature Methods
2026-07-01
|
#sequencing
#somatic
#variants
#cancer
#deep learning
|
|
0
|
|
Identification and functional characterization of regulatory variants in DPP9 associated with COVID-19 severity.
(link.springer.com)
|
Farah G
…
Marquet S
Genome Medicine
2026-07-02
|
#genome-wide association
#covid-19
#variants
#regulation
#immunity
|
|
0
|
|
UK Biobank whole-genome sequencing reveals robust contributions of rare variants to complex-trait heritability.
(link.springer.com)
|
Jung H
…
Oh B
Genome Biology
2026-07-02
|
#sequencing
#heritability
#variants
#genetics
|
|
0
|
|
FABIAN-variant 2026: improved prediction of the effects of DNA variants on transcription factor binding.
(academic.oup.com)
|
Steinhaus R
…
Seelow D
Nucleic Acids Research
2026-07-07
|
#transcription
#variants
#prediction
#binding
#deeplearning
|
|
0
|
|
When network biology meets human genetics.
(linkinghub.elsevier.com)
|
Zhang S
Cell Genomics
2026-07-08
|
#genetics
#networks
#variants
#proteomics
|
|
0
|
|
Context-aware simulation enables systematic optimization of long-read mapping parameters.
(academic.oup.com)
|
Hu J
…
Yang C
GigaScience
2026-07-08
|
#sequencing
#mapping
#optimization
#simulation
#variants
|
|
0
|
|
An integrated, scaled approach to resolve TSC2 variants of uncertain significance.
(nature.com)
|
Biar CG
…
Calhoun JD
Nature Communications
2026-07-09
|
#variants
#tuberous-sclerosis
#functional-assays
#pathogenic-classification
|