Publications:

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: rs782294140

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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appreci8: a pipeline for precise variant calling integrating 8 tools.

Bioinformatics (Oxford, England)

Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M

Publication Date: 2018-12-15

Variant appearance in text: CUX1: 2585A>T; Gln862Leu

PubMed Link: 29945233

Variant Present in the following documents:

• bty518_supplementary_data_s6.xlsx, sheet 9

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A genetic signature of the evolution of loss of flight in the Galapagos cormorant.

Science (New York, N.Y.)

Burga, Alejandro A; Wang, Weiguang W; Ben-David, Eyal E; Wolf, Paul C PC; Ramey, Andrew M AM; Verdugo, Claudio C; Lyons, Karen K; Parker, Patricia G PG; Kruglyak, Leonid L

Publication Date: 2017-06-02

Variant appearance in text: CUX1: Q862L

PubMed Link: 28572335

Variant Present in the following documents:

• Main text

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