David N Cooper

David N Cooper

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DNA polymerase η mutational signatures are found in a variety of different types of cancer.

Cell Cycle 2018 15;17(3):348-355. Epub 2018 Feb 15.

g Eppley Institute for Research in Cancer and Allied Diseases , University of Nebraska Medical Center , Omaha , NE 68198, USA.

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http://dx.doi.org/10.1080/15384101.2017.1404208DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5914734PMC
September 2019

Compound Heterozygosity for Novel Truncating Variants in the Gene as the Cause of Polyhydramnios in Two Successive Fetuses.

Front Genet 2019 13;10:835. Epub 2019 Sep 13.

Fetal Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Sun Yat-Sen University, Guangzhou, China.

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http://dx.doi.org/10.3389/fgene.2019.00835DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6753228PMC
September 2019

SeqTailor: a user-friendly webserver for the extraction of DNA or protein sequences from next-generation sequencing data.

Nucleic Acids Res 2019 Jul;47(W1):W623-W631

The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.

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http://dx.doi.org/10.1093/nar/gkz326DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6602489PMC
July 2019

RegulationSpotter: annotation and interpretation of extratranscriptic DNA variants.

Nucleic Acids Res 2019 Jul;47(W1):W106-W113

Centrum für Therapieforschung, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Berlin, Germany.

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http://dx.doi.org/10.1093/nar/gkz327DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6602480PMC
July 2019

Pathogenicity and functional impact of non-frameshifting insertion/deletion variation in the human genome.

PLoS Comput Biol 2019 Jun 14;15(6):e1007112. Epub 2019 Jun 14.

School of Informatics, Computing, and Engineering, Indiana University, Bloomington, Indiana, United States of America.

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http://dx.doi.org/10.1371/journal.pcbi.1007112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6594643PMC
June 2019

The sequencing and interpretation of the genome obtained from a Serbian individual.

PLoS One 2018 19;13(12):e0208901. Epub 2018 Dec 19.

College of Computer and Information Science, Northeastern University, Boston, Massachusetts, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0208901PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6300249PMC
May 2019

S-CAP extends pathogenicity prediction to genetic variants that affect RNA splicing.

Nat Genet 2019 04 25;51(4):755-763. Epub 2019 Feb 25.

Department of Computer Science, Stanford University, Stanford, CA, USA.

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http://dx.doi.org/10.1038/s41588-019-0348-4DOI Listing
April 2019

Nucleotide Weight Matrices Reveal Ubiquitous Mutational Footprints of AID/APOBEC Deaminases in Human Cancer Genomes.

Cancers (Basel) 2019 Feb 12;11(2). Epub 2019 Feb 12.

Departments of Microbiology and Pathology; Biochemistry and Molecular Biology; Genetics, Cell Biology and Anatomy, University of Nebraska Medical Center, Omaha, NE 68198, USA.

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http://dx.doi.org/10.3390/cancers11020211DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6406962PMC
February 2019

Ultra-deep amplicon sequencing indicates absence of low-grade mosaicism with normal cells in patients with type-1 NF1 deletions.

Hum Genet 2019 Jan 26;138(1):73-81. Epub 2018 Nov 26.

Institute of Human Genetics, University of Ulm, Albert-Einstein-Allee 11, 89081, Ulm, Germany.

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http://dx.doi.org/10.1007/s00439-018-1961-5DOI Listing
January 2019

Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease.

BMC Med Genet 2018 10 11;19(1):183. Epub 2018 Oct 11.

Molecular and Cell Biology Laboratory of Neurometabolic Diseases, Paediatric Neurology Unit and Laboratories, Neuroscience Department, Meyer Children's Hospital, Viale Pieraccini n. 24, 50139, Florence, Italy.

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https://bmcmedgenet.biomedcentral.com/articles/10.1186/s1288
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http://dx.doi.org/10.1186/s12881-018-0694-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6180571PMC
October 2018

Extreme clustering of type-1 NF1 deletion breakpoints co-locating with G-quadruplex forming sequences.

Hum Genet 2018 Jul 10;137(6-7):511-520. Epub 2018 Jul 10.

Institute of Human Genetics, University of Ulm, Albert-Einstein-Allee 11, 89081, Ulm, Germany.

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http://dx.doi.org/10.1007/s00439-018-1904-1DOI Listing
July 2018

Pronounced maternal parent-of-origin bias for type-1 NF1 microdeletions.

Hum Genet 2018 May 5;137(5):365-373. Epub 2018 May 5.

Institute of Human Genetics, University of Ulm, Albert-Einstein-Allee 11, 89081, Ulm, Germany.

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http://dx.doi.org/10.1007/s00439-018-1888-xDOI Listing
May 2018

copy number variants and promoter polymorphisms in pancreatitis: common pathogenetic mechanism, different genetic effects.

Gut 2018 03 10;67(3):592-593. Epub 2017 Jun 10.

Institut National de la Santé et de la Recherche Médicale (INSERM), U1078 Brest, France.

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http://gut.bmj.com/lookup/doi/10.1136/gutjnl-2017-314443
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http://dx.doi.org/10.1136/gutjnl-2017-314443DOI Listing
March 2018

Quantitative mapping of genetic similarity in human heritable diseases by shared mutations.

Hum Mutat 2018 02 21;39(2):292-301. Epub 2017 Nov 21.

Institute for Glycomics and School of Information and Communication Technology, Griffith University, Gold Coast, Queensland, Australia.

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http://dx.doi.org/10.1002/humu.23358DOI Listing
February 2018

Identification of compound heterozygous variants in the noncoding RNU4ATAC gene in a Chinese family with two successive foetuses with severe microcephaly.

Hum Genomics 2018 01 25;12(1). Epub 2018 Jan 25.

UMR1078 "Génétique, Génomique Fonctionnelle et Biotechnologies", INSERM, EFS - Bretagne, Université de Brest, CHRU Brest, Brest, France.

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http://dx.doi.org/10.1186/s40246-018-0135-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5784706PMC
January 2018

In vitro and in silico evidence against a significant effect of the c.194G>A variant on pre-mRNA splicing.

Gut 2017 12 20;66(12):2195-2196. Epub 2017 Mar 20.

Institut National de la Santé et de la Recherche Médicale (INSERM), U1078, Brest, France.

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http://dx.doi.org/10.1136/gutjnl-2017-313948DOI Listing
December 2017

Severe infantile isolated exocrine pancreatic insufficiency caused by the complete functional loss of the SPINK1 gene.

Hum Mutat 2017 12 12;38(12):1660-1665. Epub 2017 Oct 12.

Institut National de la Santé et de la Recherche Médicale (INSERM), U1078, Brest, France.

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http://dx.doi.org/10.1002/humu.23343DOI Listing
December 2017

Investigating DNA-, RNA-, and protein-based features as a means to discriminate pathogenic synonymous variants.

Hum Mutat 2017 10 10;38(10):1336-1347. Epub 2017 Jul 10.

School of Information and Communication Technology, Griffith University, Southport, Queensland, 4222, Australia.

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http://dx.doi.org/10.1002/humu.23283DOI Listing
October 2017

Analysis of the Impact of Known SPINK1 Missense Variants on Pre-mRNA Splicing and/or mRNA Stability in a Full-Length Gene Assay.

Genes (Basel) 2017 Oct 10;8(10). Epub 2017 Oct 10.

Institut National de la Santé et de la Recherche Médicale (INSERM), U1078, Brest 29238, France.

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http://dx.doi.org/10.3390/genes8100263DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5664113PMC
October 2017

The Rise and Rise of Exome Sequencing.

Public Health Genomics 2016 30;19(6):315-324. Epub 2016 Nov 30.

Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.

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http://dx.doi.org/10.1159/000450991DOI Listing
September 2017

regSNPs-splicing: a tool for prioritizing synonymous single-nucleotide substitution.

Hum Genet 2017 09 8;136(9):1279-1289. Epub 2017 Apr 8.

Center for Computational Biology and Bioinformatics, Indiana University School of Medicine, 410 w 10th st, HS 5000, Indianapolis, IN, 46202, USA.

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http://dx.doi.org/10.1007/s00439-017-1783-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5602096PMC
September 2017

The NF1 somatic mutational landscape in sporadic human cancers.

Hum Genomics 2017 06 21;11(1):13. Epub 2017 Jun 21.

Division of Cancer and Genetics, Institute of Medical Genetics, Cardiff University, Heath Park, Cardiff, CF14 4XN, UK.

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http://dx.doi.org/10.1186/s40246-017-0109-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5480124PMC
June 2017

In silico prioritization and further functional characterization of SPINK1 intronic variants.

Hum Genomics 2017 05 4;11(1). Epub 2017 May 4.

Institut National de la Santé et de la Recherche Médicale (INSERM), U1078, Brest, France.

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http://dx.doi.org/10.1186/s40246-017-0103-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5418720PMC
May 2017

Emerging genotype-phenotype relationships in patients with large NF1 deletions.

Hum Genet 2017 04 17;136(4):349-376. Epub 2017 Feb 17.

Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, CF14 4XN, UK.

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http://dx.doi.org/10.1007/s00439-017-1766-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5370280PMC
April 2017

The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis.

Hum Genet 2017 02 5;136(2):129-148. Epub 2016 Dec 5.

Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, CF14 4XN, UK.

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http://dx.doi.org/10.1007/s00439-016-1753-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5258795PMC
February 2017

ExonImpact: Prioritizing Pathogenic Alternative Splicing Events.

Hum Mutat 2017 01 3;38(1):16-24. Epub 2016 Oct 3.

Center for Computational Biology and Bioinformatics, Indiana University School of Medicine, Indianapolis, Indiana, 46202, USA.

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http://dx.doi.org/10.1002/humu.23111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5390777PMC
January 2017

M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity.

Nat Genet 2016 12 24;48(12):1581-1586. Epub 2016 Oct 24.

Department of Computer Science, Stanford University, Stanford, California, USA.

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http://dx.doi.org/10.1038/ng.3703DOI Listing
December 2016

Regulatory Single-Nucleotide Variant Predictor Increases Predictive Performance of Functional Regulatory Variants.

Hum Mutat 2016 11 31;37(11):1137-1143. Epub 2016 Aug 31.

Department of Biomedical Informatics and Medical Education, University of Washington, Seattle, Washington.

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http://dx.doi.org/10.1002/humu.23049DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6192032PMC
November 2016

Discovery and Functional Annotation of PRSS1 Promoter Variants in Chronic Pancreatitis.

Hum Mutat 2016 11 21;37(11):1149-1152. Epub 2016 Aug 21.

Institut National de la Santé et de la Recherche Médicale (INSERM), U1078, Brest, France.

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http://dx.doi.org/10.1002/humu.23053DOI Listing
November 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

The Loss and Gain of Functional Amino Acid Residues Is a Common Mechanism Causing Human Inherited Disease.

PLoS Comput Biol 2016 08 26;12(8):e1005091. Epub 2016 Aug 26.

Department of Computer Science and Informatics, Indiana University, Bloomington, Indiana, United States of America.

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http://dx.doi.org/10.1371/journal.pcbi.1005091DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5001644PMC
August 2016

Translocation and deletion breakpoints in cancer genomes are associated with potential non-B DNA-forming sequences.

Nucleic Acids Res 2016 07 15;44(12):5673-88. Epub 2016 Apr 15.

Institute of Medical Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff CF14 4XN, UK.

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http://dx.doi.org/10.1093/nar/gkw261DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4937311PMC
July 2016

Digging deeper into the intronic sequences of the SPINK1 gene.

Gut 2016 06 16;65(6):1055-6. Epub 2016 Feb 16.

Institut National de la Santé et de la Recherche Médicale (INSERM), U1078, Brest, France Etablissement Français du Sang (EFS)-Bretagne, Brest, France Faculté de Médecine et des Sciences de la Santé, Université de Bretagne Occidentale (UBO), Brest, France.

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http://gut.bmj.com/content/early/2016/02/16/gutjnl-2016-3114
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http://gut.bmj.com/lookup/doi/10.1136/gutjnl-2016-311428
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http://dx.doi.org/10.1136/gutjnl-2016-311428DOI Listing
June 2016

Clarifying the clinical relevance of SPINK1 intronic variants in chronic pancreatitis.

Gut 2016 May 30;65(5):884-6. Epub 2015 Dec 30.

Institut National de la Santé et de la Recherche Médicale (INSERM), U1078, Brest, France Etablissement Français du Sang (EFS)-Bretagne, Brest, France Faculté de Médecine et des Sciences de la Santé, Université de Bretagne Occidentale (UBO), Brest, France.

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http://dx.doi.org/10.1136/gutjnl-2015-311168DOI Listing
May 2016

Mutations Causing Complex Disease May under Certain Circumstances Be Protective in an Epidemiological Sense.

PLoS One 2015 10;10(7):e0132150. Epub 2015 Jul 10.

Cologne Center for Genomics, University of Cologne, Cologne, Germany; Institute of Medical Informatics and Statistics, Christian-Albrechts University, Kiel, Germany.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4498598PMC
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0132150PLOS
April 2016

A Mechanistic Link between L1 Retrotransposition and Chromothripsis.

Hum Mutat 2016 Apr;37(4):329

Cardiff University, United Kingdom.

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http://dx.doi.org/10.1002/humu.22870DOI Listing
April 2016

Fine mapping of meiotic NAHR-associated crossovers causing large NF1 deletions.

Hum Mol Genet 2016 Feb 27;25(3):484-96. Epub 2015 Nov 27.

Institute of Human Genetics, University of Ulm, 89081 Ulm, Germany,

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http://dx.doi.org/10.1093/hmg/ddv487DOI Listing
February 2016

Assessing the Pathogenicity of Insertion and Deletion Variants with the Variant Effect Scoring Tool (VEST-Indel).

Hum Mutat 2016 Jan 26;37(1):28-35. Epub 2015 Oct 26.

Department of Biomedical Engineering and Institute for Computational Medicine, The Johns Hopkins University, Baltimore, Maryland.

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http://doi.wiley.com/10.1002/humu.22911
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http://dx.doi.org/10.1002/humu.22911DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5057310PMC
January 2016

A Role for Non-B DNA Forming Sequences in Mediating Microlesions Causing Human Inherited Disease.

Hum Mutat 2016 Jan 2;37(1):65-73. Epub 2015 Nov 2.

School of Science and Technology, Nottingham Trent University, Clifton Lane, Nottingham, UK.

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http://dx.doi.org/10.1002/humu.22917DOI Listing
January 2016

Improving the in silico assessment of pathogenicity for compensated variants.

Eur J Hum Genet 2016 01 5;25(1):2-7. Epub 2016 Oct 5.

Institute of Medical Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff, UK.

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http://dx.doi.org/10.1038/ejhg.2016.129DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5159764PMC
January 2016

Complex Multiple-Nucleotide Substitution Mutations Causing Human Inherited Disease Reveal Novel Insights into the Action of Translesion Synthesis DNA Polymerases.

Hum Mutat 2015 Nov 3;36(11):1034-8. Epub 2015 Aug 3.

Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, United Kingdom.

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http://dx.doi.org/10.1002/humu.22831DOI Listing
November 2015

Proteins linked to autosomal dominant and autosomal recessive disorders harbor characteristic rare missense mutation distribution patterns.

Hum Mol Genet 2015 Nov 5;24(21):5995-6002. Epub 2015 Aug 5.

Department of Biomedical Engineering, Institute for Computational Medicine, Johns Hopkins University, Baltimore, MD 21210, USA and Department of Oncology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA,

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http://dx.doi.org/10.1093/hmg/ddv309DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6354780PMC
November 2015

The human gene damage index as a gene-level approach to prioritizing exome variants.

Proc Natl Acad Sci U S A 2015 Nov 19;112(44):13615-20. Epub 2015 Oct 19.

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U.1163, Necker Hospital for Sick Children, 75015 Paris, France; Paris Descartes University, Imagine Institute, 75015 Paris, France; Howard Hughes Medical Institute, New York, NY 10065; Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children, 75015 Paris, France

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http://dx.doi.org/10.1073/pnas.1518646112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4640721PMC
November 2015

Trans-species polymorphism in humans and the great apes is generally maintained by balancing selection that modulates the host immune response.

Hum Genomics 2015 Sep 4;9:21. Epub 2015 Sep 4.

Institute of Medical Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff, CF14 4XN, UK.

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http://dx.doi.org/10.1186/s40246-015-0043-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4559023PMC
September 2015

Disclosing the Hidden Structure and Underlying Mutational Mechanism of a Novel Type of Duplication CNV Responsible for Hereditary Multiple Osteochondromas.

Hum Mutat 2015 Aug 17;36(8):758-63. Epub 2015 Jun 17.

Institut National de la Santé et de la Recherche Médicale (INSERM), U1078, Brest, France.

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http://dx.doi.org/10.1002/humu.22815DOI Listing
August 2015

The somatic autosomal mutation matrix in cancer genomes.

Hum Genet 2015 Aug 23;134(8):851-64. Epub 2015 May 23.

In Silico Research Centers of Excellence, Advanced Biomedical Computing Center, Information Systems Program, Frederick National Laboratory for Cancer Research, Leidos Biomedical Research Inc., P.O. Box B, Frederick, MD, 21702, USA.

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http://dx.doi.org/10.1007/s00439-015-1566-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4495249PMC
August 2015

Erratum to: The somatic autosomal mutation matrix in cancer genomes.

Hum Genet 2015 Aug;134(8):865-7

In Silico Research Centers of Excellence, Advanced Biomedical Computing Center, Information Systems Program, Frederick National Laboratory for Cancer Research, Leidos Biomedical Research Inc., P.O. Box B, Frederick, MD, 21702, USA.

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http://link.springer.com/10.1007/s00439-015-1576-z
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http://dx.doi.org/10.1007/s00439-015-1576-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4643558PMC
August 2015

DDIG-in: detecting disease-causing genetic variations due to frameshifting indels and nonsense mutations employing sequence and structural properties at nucleotide and protein levels.

Bioinformatics 2015 May 7;31(10):1599-606. Epub 2015 Jan 7.

School of Information and Communication Technology, Griffith University, Parklands Drive, Southport, Queensland 4222, Australia, Institute for Integrated and Intelligent Systems, Griffith University, 170 Kessels Road, Brisbane, Queensland 4111, Australia, Queensland Research Laboratory, NICTA - National ICT Australia, 70-72 Bowen Street, Spring Hill, Queensland 4000, Australia, Institute for Glycomics, Griffith University, Parklands Drive, Southport, Queensland 4222, Australia, Institute of Medical Genetics, Cardiff University, Heath Park, Cardiff CF14 4XN, UK and Department of Medical and Molecular Genetics, Indiana University School of Medicine, 975 West Walnut Street, MRL Bldg IB130, Indianapolis, IN 46202, USA School of Information and Communication Technology, Griffith University, Parklands Drive, Southport, Queensland 4222, Australia, Institute for Integrated and Intelligent Systems, Griffith University, 170 Kessels Road, Brisbane, Queensland 4111, Australia, Queensland Research Laboratory, NICTA - National ICT Australia, 70-72 Bowen Street, Spring Hill, Queensland 4000, Australia, Institute for Glycomics, Griffith University, Parklands Drive, Southport, Queensland 4222, Australia, Institute of Medical Genetics, Cardiff University, Heath Park, Cardiff CF14 4XN, UK and Department of Medical and Molecular Genetics, Indiana University School of Medicine, 975 West Walnut Street, MRL Bldg IB130, Indianapolis, IN 46202, USA School of Information and Communication Technology, Griffith University, Parklands Drive, Southport, Queensland 4222, Australia, Institute for Integrated and Intelligent Systems, Griffith University, 170 Kessels Road, Brisbane, Queensland 4111, Australia, Queensland Research Laboratory, NICTA - National ICT Australia, 70-72 Bowen Street, Spring Hill, Queensland 4000, Australia, Institute for Glycomics, Griffith University, Parklands Drive, Southport, Queensland 4222, Australia, Institute of Medical Genetics, Cardiff University, Heath Park, Cardif

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http://dx.doi.org/10.1093/bioinformatics/btu862DOI Listing
May 2015

An integrative approach to predicting the functional effects of non-coding and coding sequence variation.

Bioinformatics 2015 May 11;31(10):1536-43. Epub 2015 Jan 11.

MRC Integrative Epidemiology Unit (IEU), University of Bristol, Bristol BS8 2BN, UK, Bristol Centre for Systems Biomedicine, University of Bristol, Bristol BS8 2BN, UK, Intelligent Systems Laboratory, University of Bristol, Bristol BS8 1UB, UK, Department of Computer Science, University of Bristol, Bristol BS8 1UB, UK and Institute of Medical Genetics, Cardiff University, Cardiff CF14 4XN, UK.

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http://dx.doi.org/10.1093/bioinformatics/btv009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4426838PMC
May 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

Local DNA dynamics shape mutational patterns of mononucleotide repeats in human genomes.

Nucleic Acids Res 2015 May 20;43(10):5065-80. Epub 2015 Apr 20.

Division of Pharmacology and Toxicology, College of Pharmacy, Dell Pediatric Research Institute, The University of Texas at Austin, 1400 Barbara Jordan Boulevard, Austin, TX 78723, USA

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http://academic.oup.com/nar/article/43/10/5065/2409261/Local
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http://dx.doi.org/10.1093/nar/gkv364DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4446427PMC
May 2015

Genetics in genomic era.

Genet Res Int 2015 25;2015:364960. Epub 2015 Mar 25.

National Center for Biotechnology Information, NIH, Bethesda, MD, USA.

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http://dx.doi.org/10.1155/2015/364960DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4390167PMC
April 2015

A changing of the guard at human genetics.

Hum Genet 2015 Jan;134(1)

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http://dx.doi.org/10.1007/s00439-014-1510-9DOI Listing
January 2015

A massively parallel pipeline to clone DNA variants and examine molecular phenotypes of human disease mutations.

PLoS Genet 2014 Dec 11;10(12):e1004819. Epub 2014 Dec 11.

Weill Institute for Cell and Molecular Biology, Cornell University, Ithaca, New York, United States of America; Department of Biological Statistics and Computational Biology, Cornell University, Ithaca, New York, United States of America.

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http://dx.plos.org/10.1371/journal.pgen.1004819
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http://dx.doi.org/10.1371/journal.pgen.1004819DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4263371PMC
December 2014

A probabilistic model to predict clinical phenotypic traits from genome sequencing.

PLoS Comput Biol 2014 Sep 4;10(9):e1003825. Epub 2014 Sep 4.

Department of Biomedical Engineering and Institute for Computational Medicine, The Johns Hopkins University, Baltimore, Maryland, United States of America.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4154636PMC
September 2014