Publications by authors named "Kaitlin Samocha"

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GREGoR: accelerating genomics for rare diseases.
Moez Dawood, Ben Heavner, Marsha M Wheeler, Rachel A Ungar, Jonathan LoTempio, Kaitlin E Samocha

Nature· November 2025

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Scalable automated reanalysis of genomic data in research and clinical rare disease cohorts.
Matthew J Welland, K D Ahlquist, Paul De Fazio, Christina Austin-Tse, Lynn Pais, Kaitlin E Samocha

medRxiv· May 2025

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Examining the role of common variants in rare neurodevelopmental conditions.
Qin Qin Huang, Emilie M Wigdor, Daniel S Malawsky, Patrick Campbell, Kaitlin E Samocha

Nature· December 2024

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Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations.
V Kartik Chundru, Zhancheng Zhang, Klaudia Walter, Sarah J Lindsay, Petr Danecek, Kaitlin E Samocha

Nat Genet· October 2024

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Genetic constraint at single amino acid resolution in protein domains improves missense variant prioritisation and gene discovery.
Xiaolei Zhang, Pantazis I Theotokis, Nicholas Li, , Caroline F Wright, Kaitlin E Samocha

Genome Med· July 2024

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The landscape of regional missense mutational intolerance quantified from 125,748 exomes.
Katherine R Chao, Lily Wang, Ruchit Panchal, Calwing Liao, Haneen Abderrazzaq, Kaitlin E Samocha

bioRxiv· May 2024

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Investigating the role of common cis-regulatory variants in modifying penetrance of putatively damaging, inherited variants in severe neurodevelopmental disorders.
Emilie M Wigdor, Kaitlin E Samocha, Ruth Y Eberhardt, V Kartik Chundru, Helen V Firth

Sci Rep· April 2024

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Inferring compound heterozygosity from large-scale exome sequencing data.
Michael H Guo, Laurent C Francioli, Sarah L Stenton, Julia K Goodrich, Nicholas A Watts, Kaitlin E Samocha

Nat Genet· January 2024

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Inferring compound heterozygosity from large-scale exome sequencing data.
Michael H Guo, Laurent C Francioli, Sarah L Stenton, Julia K Goodrich, Nicholas A Watts, Kaitlin E Samocha

bioRxiv· August 2023

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Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland.
Caroline F Wright, Patrick Campbell, Ruth Y Eberhardt, Stuart Aitken, Daniel Perrett, Kaitlin E Samocha

N Engl J Med· April 2023

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Genetic risk factors have a substantial impact on healthy life years.
Sakari Jukarainen, Tuomo Kiiskinen, Sara Kuitunen, Aki S Havulinna, Juha Karjalainen, Kaitlin E Samocha

Nat Med· September 2022

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A cross-disorder dosage sensitivity map of the human genome.
Ryan L Collins, Joseph T Glessner, Eleonora Porcu, Maarja Lepamets, Rhonda Brandon, Kaitlin E Samocha

Cell· August 2022

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Reduced reproductive success is associated with selective constraint on human genes.
Eugene J Gardner, Matthew D C Neville, Kaitlin E Samocha, Kieron Barclay, Martin Kolk

Nature· March 2022

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Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans.
Sanna Gudmundsson, Konrad J Karczewski, Laurent C Francioli, Grace Tiao, Beryl B Cummings, Kaitlin E Samocha

Nature· September 2021

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Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms.
Caroline F Wright, Nicholas M Quaife, Laura Ramos-Hernández, Petr Danecek, Matteo P Ferla, Kaitlin E Samocha

Am J Hum Genet· June 2021

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Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans.
Konrad J Karczewski, Laurent C Francioli, Grace Tiao, Beryl B Cummings, Jessica Alföldi, Kaitlin E Samocha

Nature· February 2021

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The contribution of X-linked coding variation to severe developmental disorders.
Hilary C Martin, Eugene J Gardner, Kaitlin E Samocha, Joanna Kaplanis, Nadia Akawi

Nat Commun· January 2021

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Evidence for 28 genetic disorders discovered by combining healthcare and research data.
Joanna Kaplanis, Kaitlin E Samocha, Laurens Wiel, Zhancheng Zhang, Kevin J Arvai

Nature· October 2020

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The mutational constraint spectrum quantified from variation in 141,456 humans.
Konrad J Karczewski, Laurent C Francioli, Grace Tiao, Beryl B Cummings, Jessica Alföldi, Kaitlin E Samocha

Nature· May 2020

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Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders.
Dennis Lal, Patrick May, Eduardo Perez-Palma, Kaitlin E Samocha, Jack A Kosmicki

Genome Med· March 2020

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Exome sequencing in schizophrenia-affected parent-offspring trios reveals risk conferred by protein-coding de novo mutations.
Daniel P Howrigan, Samuel A Rose, Kaitlin E Samocha, Menachem Fromer, Felecia Cerrato

Nat Neurosci· February 2020

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Contribution of retrotransposition to developmental disorders.
Eugene J Gardner, Elena Prigmore, Giuseppe Gallone, Petr Danecek, Kaitlin E Samocha

Nat Commun· October 2019

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Reply to 'Selective effects of heterozygous protein-truncating variants'.
Christopher A Cassa, Donate Weghorn, Daniel J Balick, Daniel M Jordan, David Nusinow, Kaitlin E Samocha

Nat Genet· January 2019

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Base-specific mutational intolerance near splice sites clarifies the role of nonessential splice nucleotides.
Sidi Zhang, Kaitlin E Samocha, Manuel A Rivas, Konrad J Karczewski, Emma Daly

Genome Res· July 2018

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Corrigendum: High-throughput discovery of novel developmental phenotypes.
Mary E Dickinson, Ann M Flenniken, Xiao Ji, Lydia Teboul, Michael D Wong, Kaitlin E Samocha

Nature· November 2017

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