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36
|
|
A phenome-wide structural variant map from 467,152 UK Biobank genomes.
(linkinghub.elsevier.com)
|
Atanur SS
…
Petrovski S
Cell
2026-10-15
|
#structural variation
#genome-wide association
#sequencing
#phenotype
#genetics
|
|
15
|
|
Aberrant one-carbon metabolism and ancestral genetics underlie edematous severe acute malnutrition.
(nature.com)
|
Lie NC
…
Hanchard NA
Nature Communications
2026-10-15
|
#genetics
#malnutrition
#metabolism
#childhood
#polymorphisms
|
|
12
|
|
The genetic architecture of pentanucleotide repeat variation and disease association.
(linkinghub.elsevier.com)
|
Xu IRL
…
Zuchner S
American Journal of Human Genetics
2026-10-16
|
#sequencing
#tandem repeats
#neurological
#variation
#genetics
|
|
7
|
|
CNPY3 variants associated with a recessive developmental and epileptic encephalopathy affect inflammasome and TLR function.
(linkinghub.elsevier.com)
|
Garloff V
…
Husain RA
EBioMedicine
2026-10-14
|
#epilepsy
#encephalopathy
#genetics
#inflammasome
#immunology
|
|
7
|
|
Exploration of the genetic architecture of ANCA-associated vasculitis.
(linkinghub.elsevier.com)
|
Byun J
…
Amos CI
EBioMedicine
2026-10-14
|
#genome-wide association
#vasculitis
#genetics
#autoimmune
#hla
|
|
5
|
|
Towards a unified biology of vertebrate number sense.
(nature.com)
|
Zanon M
…
Miletto-Petrazzini ME
Communications Biology
2026-10-15
|
#cognition
#neurodevelopment
#genetics
#comparative
|
|
5
|
|
De novo MAP2K4 variants cause a neurodevelopmental syndrome and impaired JNK signaling in iPSC-derived neurons.
(linkinghub.elsevier.com)
|
Nomakuchi TT
…
Bhoj EJK
American Journal of Human Genetics
2026-10-13
|
#neurodevelopment
#ipsc
#signaling
#genetics
#epilepsy
|
|
4
|
|
Identity-by-descent captures shared environmental factors at biobank scale.
(genome.cshlp.org)
|
Marsico F
…
Colonna V
Genome Research
2026-10-13
|
#genetics
#epidemiology
#health disparities
#environmental health
#biobank
|
|
1
|
|
Epistatic redundancy reconciles pervasive genetic interactions with their rarity in genome-wide analyses.
(academic.oup.com)
|
Schlotterer C
Genetics
2026-10-12
|
#epistasis
#genetics
#genome-wide association
#population
|