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Genetics

D-Index
62
Citations
52293
World Ranking
2928
National Ranking
1281

Overview

Gregory M. Cooper is affiliated with the HudsonAlpha Institute for Biotechnology in the United States. Their research spans primarily the field of Biochemistry, Genetics and Molecular Biology, with a strong focus on Genetics and Molecular Biology as subfields. Additional areas of study include Cancer Research, Pediatrics, Perinatology and Child Health, and Pulmonary and Respiratory Medicine.

The main topics covered in their work include:

  • Genomics and Rare Diseases
  • Genomics and Chromatin Dynamics
  • Genomic variations and chromosomal abnormalities
  • Genetics and Neurodevelopmental Disorders
  • BRCA gene mutations in cancer
  • Cancer Genomics and Diagnostics
  • Single-cell and spatial transcriptomics

Gregory M. Cooper has contributed to multiple recent papers, including:

  • "Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies," 2020, The American Journal of Human Genetics
  • "Single-cell multi-cohort dissection of the schizophrenia transcriptome," 2024, Science
  • "Single-cell genomics and regulatory networks for 388 human brains," 2024, Science
  • "Non-coding and Loss-of-Function Coding Variants in TET2 are Associated with Multiple Neurodegenerative Diseases," 2020, The American Journal of Human Genetics
  • "Long-read genome sequencing for the molecular diagnosis of neurodevelopmental disorders," 2021, Human Genetics and Genomics Advances

The frequent co-authors collaborating with Gregory M. Cooper comprise:

  • Kevin M. Bowling
  • James M.J. Lawlor
  • Susan M. Hiatt
  • Michelle L. Thompson
  • Candice R. Finnila

Their works have been published repeatedly in several key venues, including:

  • bioRxiv (Cold Spring Harbor Laboratory)
  • Genetics in Medicine
  • UNC Libraries
  • Science
  • The American Journal of Human Genetics

Best Publications

  • A general framework for estimating the relative pathogenicity of human genetic variants

    Martin Kircher;Daniela M Witten;Preti Jain;Brian J O'Roak;Brian J O'Roak

  • Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

    Ewan Birney;John A. Stamatoyannopoulos;Anindya Dutta;Roderic Guigó

  • CADD: predicting the deleteriousness of variants throughout the human genome.

    Philipp Rentzsch;Daniela M. Witten;Gregory M. Cooper;Jay Shendure

  • The ENCODE (ENCyclopedia of DNA elements) Project

    E. A. Feingold;P. J. Good;M. S. Guyer;S. Kamholz

  • Genome sequence of the Brown Norway rat yields insights into mammalian evolution

    Richard A. Gibbs;George M. Weinstock;Michael L. Metzker;Donna M. Muzny

  • Identifying a high fraction of the human genome to be under selective constraint using GERP

    Eugene V. Davydov;David L. Goode;Marina Sirota;Gregory M. Cooper

  • Rare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia

    Tom Walsh;Jon M. McClellan;Shane E. McCarthy;Anjené M. Addington

  • Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.

    Sekar Kathiresan;Sekar Kathiresan;Olle Melander;Candace Guiducci;Aarti Surti

  • Distribution and intensity of constraint in mammalian genomic sequence

    Gregory M. Cooper;Eric A. Stone;George Asimenos;Eric D. Green

  • Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

    Sarah B. Ng;Abigail W. Bigham;Kati J. Buckingham;Mark C. Hannibal;Mark C. Hannibal

  • LAGAN and Multi-LAGAN: efficient tools for large-scale multiple alignment of genomic DNA.

    Michael Brudno;Chuong B. Do;Gregory M. Cooper;Michael F. Kim

  • A copy number variation morbidity map of developmental delay

    Gregory M Cooper;Bradley P Coe;Santhosh Girirajan;Jill A Rosenfeld

  • Guidelines for investigating causality of sequence variants in human disease

    D G MacArthur;T A Manolio;D P Dimmock;H L Rehm

  • Mapping and sequencing of structural variation from eight human genomes

    Jeffrey M. Kidd;Gregory M. Cooper;William F. Donahue;Hillary S. Hayden

  • Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

    Elizabeth T. Cirulli;Brittany N Lasseigne;Slave Petrovski;Peter C Sapp

  • Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data

    Gregory M. Cooper;Jay Shendure

  • Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic Disease

    Andy Itsara;Gregory M. Cooper;Carl Baker;Santhosh Girirajan

  • A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

    Santhosh Girirajan;Jill A. Rosenfeld;Gregory M. Cooper;Francesca Antonacci

  • A general framework for estimating the relative pathogenicity of human genetic variants

    Martin Kircher;Daniela M. Witten;Gregory M. Cooper;Jay Shendure

  • Corrigendum: A copy number variation morbidity map of developmental delay

    Gregory M Cooper;Bradley P Coe;Santhosh Girirajan;Jill A Rosenfeld

Frequent Co-Authors

Evan E. Eichler
Evan E. Eichler University of Washington
Gregory S. Barsh
Gregory S. Barsh Stanford University
Arend Sidow
Arend Sidow Stanford University
Jay Shendure
Jay Shendure University of Washington
Richard M. Myers
Richard M. Myers HudsonAlpha Institute for Biotechnology
Serafim Batzoglou
Serafim Batzoglou Stanford University
Deborah A. Nickerson
Deborah A. Nickerson University of Washington
Martin Kircher
Martin Kircher Charité - University Medicine Berlin
Heather C. Mefford
Heather C. Mefford University of Washington
Heidi L. Rehm
Heidi L. Rehm Brigham and Women's Hospital

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