Kaitlin E Samocha

Kaitlin E Samocha

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Kaitlin E Samocha

Kaitlin E Samocha

Publications by authors named "Kaitlin E Samocha"

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28Publications

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Base-specific mutational intolerance near splice sites clarifies the role of nonessential splice nucleotides.

Genome Res 2018 07 1;28(7):968-974. Epub 2018 Jun 1.

Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.

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http://dx.doi.org/10.1101/gr.231902.117DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6028136PMC
July 2018

Corrigendum: High-throughput discovery of novel developmental phenotypes.

Nature 2017 11 8;551(7680):398. Epub 2017 Nov 8.

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http://dx.doi.org/10.1038/nature24643DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5849394PMC
November 2017

A framework for the detection of de novo mutations in family-based sequencing data.

Eur J Hum Genet 2017 02 23;25(2):227-233. Epub 2016 Nov 23.

Department of Medical Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2016.147DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5255947PMC
February 2017

Patterns of genic intolerance of rare copy number variation in 59,898 human exomes.

Nat Genet 2016 10 17;48(10):1107-11. Epub 2016 Aug 17.

Division of Psychiatric Genomics, Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York, USA.

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http://dx.doi.org/10.1038/ng.3638DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5042837PMC
October 2016

High-throughput discovery of novel developmental phenotypes.

Nature 2016 09 14;537(7621):508-514. Epub 2016 Sep 14.

The Jackson Laboratory, Bar Harbor, Maine 04609, USA.

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http://dx.doi.org/10.1038/nature19356DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5295821PMC
September 2016

Analysis of protein-coding genetic variation in 60,706 humans.

Nature 2016 08;536(7616):285-91

Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.

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http://www.nature.com/articles/nature19057
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http://dx.doi.org/10.1038/nature19057DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5018207PMC
August 2016

Network Analysis of Genome-Wide Selective Constraint Reveals a Gene Network Active in Early Fetal Brain Intolerant of Mutation.

PLoS Genet 2016 06 15;12(6):e1006121. Epub 2016 Jun 15.

Department of Neurology, Yale School of Medicine, New Haven Connecticut, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1006121DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4909280PMC
June 2016

Quantifying prion disease penetrance using large population control cohorts.

Sci Transl Med 2016 Jan;8(322):322ra9

Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology (MIT) and Harvard, Cambridge, MA 02142, USA. Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA.

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http://dx.doi.org/10.1126/scitranslmed.aad5169DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4774245PMC
January 2016

Interpreting de novo Variation in Human Disease Using denovolyzeR.

Curr Protoc Hum Genet 2015 Oct 6;87:7.25.1-15. Epub 2015 Oct 6.

Department of Genetics, Harvard Medical School, Boston, Massachusetts.

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http://doi.wiley.com/10.1002/0471142905.hg0725s87
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http://dx.doi.org/10.1002/0471142905.hg0725s87DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4606471PMC
October 2015

The evaluation of tools used to predict the impact of missense variants is hindered by two types of circularity.

Hum Mutat 2015 May 26;36(5):513-23. Epub 2015 Mar 26.

Machine Learning and Computational Biology Research Group, Max Planck Institute for Intelligent Systems and Max Planck Institute for Developmental Biology, Tübingen, Germany; Zentrum für Bioinformatik, Eberhard Karls Universität Tübingen, Tübingen, Germany; Department for Biosystems Science and Engineering, ETH Zürich, Basel, Switzerland.

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https://orca-mwe.cf.ac.uk/84063/1/Grimm_et_al-2015-Human_Mut
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http://doi.wiley.com/10.1002/humu.22768
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http://dx.doi.org/10.1002/humu.22768DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4409520PMC
May 2015

Autism spectrum disorder severity reflects the average contribution of de novo and familial influences.

Proc Natl Acad Sci U S A 2014 Oct 6;111(42):15161-5. Epub 2014 Oct 6.

Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114; Stanley Center for Psychiatric Research and Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142;

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http://dx.doi.org/10.1073/pnas.1409204111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4210299PMC
October 2014

A framework for the interpretation of de novo mutation in human disease.

Nat Genet 2014 Sep 3;46(9):944-50. Epub 2014 Aug 3.

1] Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA. [2] Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA. [3] Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA.

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http://dx.doi.org/10.1038/ng.3050DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4222185PMC
September 2014

Replication of long-bone length QTL in the F9-F10 LG,SM advanced intercross.

Mamm Genome 2009 Apr 21;20(4):224-35. Epub 2009 Mar 21.

Department of Anatomy and Neurobiology, Washington University School of Medicine, Box 8108, 660 South Euclid Avenue, St. Louis, MO 63110, USA.

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http://dx.doi.org/10.1007/s00335-009-9174-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2736561PMC
April 2009