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Leveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome gaps.

Bilgrav Saether K, Eisfeldt J, Bengtsson JD, ..., Carvalho CMB, Lindstrand A

Genome Res. 34 (11) 1785-1797 [2024-11-20; online 2024-11-20]

Clinical Genomics Stockholm [Service] NGI Long read [Collaborative] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Wang T, Hoekzema K, Vecchio D, ..., Xia K, Eichler EE

Nat Commun 11 (1) 4932 [2020-10-01; online 2020-10-01]

Clinical Genomics Stockholm [Service]