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Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations

Using well-calibrated statistical methods the authors jointly analyze Undiagnosed Diseases Network genomes, identifying known and novel disease genes. Software is publicly available to support future cross-cohort rare disease discovery efforts.

Shilpa Nadimpalli Kobren
Mikhail A. Moldovan
Shamil R. Sunyaev
ResearchOpen Access07 Aug 2025
Nature Communications

Volume: 16, P: 1-19
Exome sequencing identifies recurrent mutations in NF1 and RASopathy genes in sun-exposed melanomas

Ruth Halaban, Michael Krauthammer and colleagues report exome sequencing of 213 melanomas and identify a distinct co-mutation pattern of NF1 with known RASopathy genes. They identify novel melanoma mutations in several RASopathy genes and suggest that mutations in these genes may enhance the pathogenicity of NF1 mutation.

Michael Krauthammer
Yong Kong
Ruth Halaban
Research27 Jul 2015
Nature Genetics

Volume: 47, P: 996-1002
Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma

Ruth Halaban and colleagues report exome sequences of 147 melanoma tumors. They identified a recurrent somatic activating alteration in the Rho GTPase RAC1 in sun-exposed melanomas.

Michael Krauthammer
Yong Kong
Ruth Halaban
Research29 Jul 2012
Nature Genetics

Volume: 44, P: 1006-1014
A secure and imperceptible communication system for sharing co-ordinate data

Ranjeet Bidwe
Sahil Kale
Suraj Sawant
ResearchOpen Access12 Jul 2025
Scientific Reports

Volume: 15, P: 1-26
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands

Exome sequencing of 2,871 probands with congenital heart disease (CHD) provides new insights into the genetic architecture of these disorders. The results implicate new genes in CHD pathogenesis and highlight striking overlap between genes with damaging de novo mutations in individuals with CHD and autism.

Sheng Chih Jin
Jason Homsy
Martina Brueckner
Research09 Oct 2017
Nature Genetics

Volume: 49, P: 1593-1601

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Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations

Exome sequencing identifies recurrent mutations in NF1 and RASopathy genes in sun-exposed melanomas

Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma

A secure and imperceptible communication system for sharing co-ordinate data

Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands

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Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations

Exome sequencing identifies recurrent mutations in NF1 and RASopathy genes in sun-exposed melanomas

Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma

A secure and imperceptible communication system for sharing co-ordinate data

Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands

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