Kyle Kai-How Farh on Muck Rack

Kyle Kai-How Farh

As seen in: Nature, Flipboard, Genome Medicine
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Articles

Estimation and mapping of the missing heritability of human phenotypes - Nature

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By Pierrick Wainschtein, Yuanxiang Zhang, Irfahan Kassam, Julia Sidorenko, Huanwei Wang, Jeremy F McRae, Sriram Sankararaman, Jian Zeng, Peter M. Visscher, Kyle Kai-How Farh
| Nature Verified
Abstract Rare coding variants shape inter-individual differences in human phenotypes1. However, the contribution of rare non-coding variants to those differences remains poorly characterized.
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Identification of constrained sequence elements across 239 primate genomes - Nature

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By Kyle Kai-How Farh
| Nature Verified
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Clinical impact of splicing in neurodevelopmental disorders

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By Stephan Sanders, Grace B. Schwartz, Kyle Kai-How Farh
| Genome Medicine Verified
Abstract Clinical exome sequencing is frequently used to identify gene-disrupting variants in individuals with neurodevelopmental disorders. While splice-disrupting variants are known to contribute to these disorders, clinical interpretation of cryptic splice variants outside of the canonical splice site has been challenging. Here, we discuss papers that improve such detection.
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