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Seth Berger on Muck Rack

Seth Berger

As seen in: Nature, TIME, Wiley Online Library, Sports Illustrated, BioRxiv, The American Journal of Human Genetics, Cell Press, Dove Medical Press, Money, medRxiv and
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Articles

Sequencing approaches in hereditary cancer testing: strengths, limitations and future directions

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By Sami Belhadj, Christopher Hatch, Holly LaDuca, Carolyn Horton, Seth Berger, Rachid Karam
| Nature Verified
Abstract Over the past three decades, Hereditary Cancer Testing (HCT) has evolved from single gene assays into multigene panel testing (MGPT), which allows for the screening of all known hereditary cancer genes in a single assay. MGPT is currently the standard approach for clinical HCT. However, with decreasing sequencing costs and increased instrument throughput, the scalability of exome sequencing (ES) and genome sequencing (GS) for HCT indications is becoming more viable.
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Identification of de novo variants from parent-proband duos via long-read sequencing

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By Leandros Boukas, Emmanuèle C. Délot, Georgia Pitsava, Christine Lambert, Cairbre Fanslow, Sami Belhadj, Bojan Losic, John Harting, Krista Bluske, Jonathan LoTempio, Huda B Al-Kouatly, Rachid Karam, William J Rowell, Changrui Xiao, Eric Vilain, Seth Berger, Primo Baybayan
| The American Journal of Human Genetics Verified
Keywords de novo variants Mendelian disease long-read sequencing HiFi sequencing Introduction De novo variants, which are present in affected probands but not (constitutively) present in the parents, underlie a substantial fraction of Mendelian disorders.1,2,3,4,5,6 These disorders are typically highly penetrant and are often encountered as cases of severely affected probands with unaffected parents.
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GREGoR: accelerating genomics for rare diseases - Nature

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By Moez Dawood, Ben Heavner, Rachel A Ungar, Laurens Wiel, Seth Berger, Jonathan Bernstein, Jessica X. Chong, Evan E. Eichler, James R. Lupski, Michael E. Talkowski, Alex Wagner, Chia-Lin Wei, Christopher N. Wellington, Matthew Wheeler, Casey A. Gifford, Danny Miller, Kaitlin E. Samocha, Fritz J Sedlazeck, Anne H. O’Donnell-Luria, Stephen Montgomery
| Nature Verified
Abstract Rare diseases are collectively common, affecting approximately 1 in 20 individuals worldwide. In recent years, rapid progress has been made in rare disease diagnostics due to advances in next-generation sequencing, development of new computational and functional genomics approaches to prioritize genes and variants and increased global sharing of clinical and genetic data. However, more than half of individuals suspected to have a rare disease lack a genetic diagnosis.
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