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A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project.
Genome Med. 2022 Jul 26;14(1):79. doi: 10.1186/s13073-022-01087-x.
Genome Med. 2022.
PMID: 35883178
Free PMC article.
Recommendations for clinical interpretation of variants found in non-coding regions of the genome.
Ellingford JM, Ahn JW, Bagnall RD, Baralle D, Barton S, Campbell C, Downes K, Ellard S, Duff-Farrier C, FitzPatrick DR, Greally JM, Ingles J, Krishnan N, Lord J, Martin HC, Newman WG, O'Donnell-Luria A, Ramsden SC, Rehm HL, Richardson E, Singer-Berk M, Taylor JC, Williams M, Wood JC, Wright CF, Harrison SM, Whiffin N.
Ellingford JM, et al.
Genome Med. 2022 Jul 19;14(1):73. doi: 10.1186/s13073-022-01073-3.
Genome Med. 2022.
PMID: 35850704
Free PMC article.
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