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The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases

• Authors : Laurie, Steven; Piscia, Davide; Matalonga, Leslie

Subjects: Medical and Health Sciences; Basic Medicine; Medical Genetics

• Source: Human Mutation. 43(6):717-733

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Phenotype‐driven approaches to enhance variant prioritization and diagnosis of rare disease

• Authors : Jacobsen, Julius O. B.; Kelly, Catherine; Cipriani, Valentina

• Source: Human mutation. 43(8):1071-1081

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GA4GH Phenopackets: A Practical Introduction

• Authors : Ladewig, Markus S.; Jacobsen, Julius O. B.; Wagner, Alex H.

• Source: Advanced genetics. 4(1)

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Phenopacket-tools: Building and validating GA4GH Phenopackets.

• Authors : Danis, Daniel¹ (AUTHOR) ; Jacobsen, Julius O. B.² (AUTHOR); Wagner, Alex H.^3,4 (AUTHOR)

• Source: PLoS ONE. 5/17/2023, Vol. 17 Issue 5, p1-19. 19p.

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Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases

• Authors : Jacobsen, Julius O B; Kelly, Catherine; Cipriani, Valentina

• Source: Briefings in bioinformatics. 23(5)

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GA4GH Phenopackets: A Practical Introduction

• Authors : Ladewig, Markus S; Jacobsen, Julius O B; Wagner, Alex H ...

Subjects: FAIR data; Human Genome; deep phenotyping

• Source: Advanced genetics (Hoboken, N.J.), vol 4, iss 1

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SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing.

• Authors : Danis, Daniel¹ (AUTHOR); Jacobsen, Julius O. B.² (AUTHOR); Balachandran, Parithi¹ (AUTHOR)

• Source: Genome Medicine. 4/28/2022, Vol. 14 Issue 1, p1-13. 13p.

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The GA4GH Phenopacket schema defines a computable representation of clinical data

• Authors : Jacobsen, Julius O B; Baudis, Michael; Baynam, Gareth S ...

Subjects: 1502 Bioengineering; 1313 Molecular Medicine; 1305 Biotechnology

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The GA4GH Phenopacket schema defines a computable representation of clinical data

• Authors : Jacobsen, Julius O. B.; Baudis, Michael; Baynam, Gareth S. ...

Subjects: Biomedical Engineering; Molecular Medicine; GAGH Phenopacket Modeling Consortium

• Source: Nature BiotechnologyNat Biotechnol

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Additional file 1 of SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing

• Authors : Danis, Daniel; Jacobsen, Julius O. B.; Balachandran, Parithi

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