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Half of germline pathogenic and likely pathogenic variants found on panel tests do not fulfil NHS testing criteria

Autor: Tala Andoni, Jennifer Wiggins, Rachel Robinson, Ruth Charlton, Michael Sandberg, Rosalind Eeles

Publikováno v: Scientific Reports, Vol 12, Iss 1, Pp 1-14 (2022)

Abstract Genetic testing for cancer predisposition has been curtailed by the cost of sequencing, and testing has been restricted by eligibility criteria. As the cost of sequencing decreases, the question of expanding multi-gene cancer panels to a bro

Externí odkaz: https://doaj.org/article/b5bee62197ab4ba7aade35f6b491b44c

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Half of germline pathogenic and likely pathogenic variants found on panel tests do not fulfil NHS testing criteria

Autor: Tala Andoni, Jennifer Wiggins, Rachel Robinson, Ruth Charlton, Michael Sandberg, Rosalind Eeles

Publikováno v: Scientific reports. 12(1)

Genetic testing for cancer predisposition has been curtailed by the cost of sequencing, and testing has been restricted by eligibility criteria. As the cost of sequencing decreases, the question of expanding multi-gene cancer panels to a broader popu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::687879e65e6f9d068e77fa0f07e88a3f
https://pubmed.ncbi.nlm.nih.gov/35190596

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A novel autosomal recessive DEAF1 nonsense variant: expanding the clinical phenotype

Autor: Sian Ellard, Emma Wakeling, Jogesh Kapadia, Tala Andoni

Publikováno v: Clinical dysmorphology. 29(2)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ce006ffeca60ddcdabb5c7281a80937
https://pubmed.ncbi.nlm.nih.gov/31688097

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