EFTA01140242Set 9
2013-08-2714p12,142w
Personalized genomic disease risk of volunteers
Manuel L. Gonzalez-Garay'', Amy L. McGuireb, Stacey Pereirab, and C. Thomas Casket'
'Center for Molecular Imaging, Division of Genomia and Bioinformatics, The Brown ... found in Human
for the adoption of this technology into medical practice. We Genome Mutation Database (HGMD) (13, 14) and labeled
performed whole exome sequencing (WES) on 81 volunteers ... comprehensive educational program. We lim- Sequencing Project (15) and the 1,000 Genomes Project
ited our clinical reporting to disease risks based on only rare Genomes (16, 17)] and predicted
https://www.justice.gov/epstein/files/DataSet%209/EFTA01140242.pdf
EFTA00287263Set 9
2013-06-2010p8,168w
Genetics
itmenon College 01Medical Genetics and Genomics ACMG POLICY STATEMENT inMedicine
ACMG recommendations for reporting of incidental findings
in clinical exome and genome sequencing
Robert C. Green, MD, MPhlu, Jonathan ... record the rationale for any significant deviation from these recommendations.
In dinical exome and genome sequencing, there is a potential for the dations, are described herein. The ACMG recommends that ... Medical Genetics and and reporting should be performed for all clinical germline (consti-
Genomics (ACMG) recently published a policy statement on clinical tutional) exome and genome sequencing, including the "normal
https://www.justice.gov/epstein/files/DataSet%209/EFTA00287263.pdf
EFTA01140256Set 9
2013-06-2010p8,168w
Genetics
itmenon College 01Medical Genetics and Genomics ACMG POLICY STATEMENT inMedicine
ACMG recommendations for reporting of incidental findings
in clinical exome and genome sequencing
Robert C. Green, MD, MPhlu, Jonathan ... record the rationale for any significant deviation from these recommendations.
In dinical exome and genome sequencing, there is a potential for the dations, are described herein. The ACMG recommends that ... Medical Genetics and and reporting should be performed for all clinical germline (consti-
Genomics (ACMG) recently published a policy statement on clinical tutional) exome and genome sequencing, including the "normal
https://www.justice.gov/epstein/files/DataSet%209/EFTA01140256.pdf
EFTA01140225Set 9
2014-02-1014p5,923w
impression is your interests could be considered self-discovery using the latest in
genomics tools: including a) sequencing, b) data analyses and storage, and c) genomic
and functional manipulation ... involvement with the PGP has weaned off in order to pursue
my own genomics research study at MGH that would be decidedly more:
a) Clinical:, obviously as a physician this ... reasons (eg, a sick family member) differently from a healthy
participant in a clinical genomic research study, researchers will need to strongly
consider returning these results in a responsible
https://www.justice.gov/epstein/files/DataSet%209/EFTA01140225.pdf
EFTA00304646Set 9
2014-02-1014p5,931w
impression is your interests could be considered self-discovery using the latest in
genomics tools: including a) sequencing, b) data analyses and storage, and c) genomic
and functional manipulation ... involvement with the PGP has weaned off in order to pursue
my own genomics research study at MGH that would be decidedly more:
a) Clinical:, obviously as a physician this ... reasons (eg, a sick family member) differently from a healthy
participant in a clinical genomic research study, researchers will need to strongly
consider returning these results in a responsible
https://www.justice.gov/epstein/files/DataSet%209/EFTA00304646.pdf
EFTA01140307Set 9
2012-02-284p3,580w
Human Mutation
OFFICIAL JOURNAL
Back to the Future: From Genome to Metabolome HGV§1
HUMAN GENOME
VARIATION SOCIETY
wAwrq. wo
Joseph V. Thakuria,I 2* Alexander W. Zaranek," George ... many lives worldwide. Only recently, deficiencies and other biochemical disorders.
As we enter the genomics era, our most diagnostically challenging
though, has it become possible to move in the opposite ... direction by starting with an individual's whole genome cases in a medical genetics clinic are rapidly moving from a state
of having no causal molecular candidates to having many
https://www.justice.gov/epstein/files/DataSet%209/EFTA01140307.pdf
EFTA01103465Set 9
2013-12-0230p11,241w
indoor physical environment
• Engaging in natural language dialogue utilizing information on the Web
• Analyzing genomics datasets relating to the longevity of various organisms
• Automated program learning and theorem proving
From ... natural language dialogue, game Al,
toy robotics, computer algorithm design, theorem-proving and genomic data analysis. In the following three years,
we will give the thinking machine the ability ... Audition & Haptics) 25
4.4 Robot Movement Control 25
4.5 Game World Development 26
4.6 Genomics Data Analysis 26
4.7 Text, Image and Video Mining 27
4.8 Automated Programming
https://www.justice.gov/epstein/files/DataSet%209/EFTA01103465.pdf
EFTA01100261Set 9
2016-02-2939p20,086w
results seen. Gene therapy
generally involves the addition of a new gene to a genome. These new genes can be to replace a defective gene ... gene. The original genes remain intact. Gene editing involves changing the genome, which can
involve the addition, deletion, or substitution of components of the genome. CRISPR/Cas9 is not a genetherapy ... edit DNA by allowing the
enzyme Cas9 to cut and insert the desired genome sequences.
The CRISPR/Cas system is formed from CRISPR arrays and CAS genes. CRISPR arrays are clustered
https://www.justice.gov/epstein/files/DataSet%209/EFTA01100261.pdf
EFTA00639570Set 9
2017-07-015p936w
From: Harvard PGP
To: Jeffrey
Subject: Personal Genome Project - Updated phenotype ranking, neurodiversity and more!
Date: Sat, 01 Jul 2017 15:10:48 +0000
Dear Jeffrey,
We are writing ... contributor to the Harvard Personal Genome Project
(PGP). Thank you for participating in PGP! The unique combination of open-
EFTA00639570
access genotype, phenotype and cell-lines have made ... have any questions or issues, please feel free to contact us at
support@hu.pgp-hms.org
Baby Genome Sequencing in China (Veritas Genetics)
Recently, Veritas Genetics (a spinoff from Harvard PGP) announced that
https://www.justice.gov/epstein/files/DataSet%209/EFTA00639570.pdf
EFTA00986409Set 9
2014-03-2136p11,394w
Most of Us Are Part Neanderthal
Steven Mithen
Neanderthal Man: In Search of. Lost Genomes
by Svante Paabo
Basic Books, 275 pp., $27.99
The Gap: The Science of What Separates ... more and my students have had a lucky escape. By
finding the lost genome, the Swedish biologist Svante Paabo has
discovered that we are all part Neanderthal—except those with ... Leipzig) and brilliantly recounted in
his new book, Neanderthal Man: In Search of Lost Genomes.
Paabo has provided us with a fabulous account of three decades of research
into ancient
https://www.justice.gov/epstein/files/DataSet%209/EFTA00986409.pdf
EFTA01193276Set 9
2015-08-295p983w
third-party activities you can join! View this email in your browser
Harvard Personal Genome Project: August 2015
News and Updates
Dear PGP Harvard participant,
Since January of this year ... September 12 and 13, at the famous Harvard
Sanders Theatre, the Harvard Personal Genome Project and the Mind First
Foundation will hold their first jointly organized U.S. conference and labs ... Annual GET Conference
EFTA01193276
In years past, the PGP was featured at the Genomes Environments Traits (GET)
Conference. This year, the GET Conference is going international, and will take place
https://www.justice.gov/epstein/files/DataSet%209/EFTA01193276.pdf
EFTA01140239Set 9
3p1,543w
internal medicine and clinical and biochemical genetics with expertise in individualized
interpretation of genomic and other -omic datasets. While still in my clinical genetics training, I discovered a new
syndrome ... Since 2005, I
have worked as co-investigator and Medical Director of the Personal Genome Project (PGP) led by PI, Dr. George Church
— an HMS IRB approved study for enrollment ... Genetic, Environmental, and Traits) Evidence, and Trait-o-matic for automated analysis of whole genome and exome
data. More recently, colleagues and I have developed the Genome Parsing System
https://www.justice.gov/epstein/files/DataSet%209/EFTA01140239.pdf
EFTA00805732Set 9
39p13,737w
desirable and unde- cation is tightly regulated and remarkably accurate,
sirable to sequence your genome to see if you errors do occur and result in mutations, which ... says,
a matter otpatients
taking charge of their
diagnosis.
to sequence his wife's genomes. He paid several thou-
sand dollars from his own pocket to learn his wife ... they didn't have to pay to
have each of the family member's genomes sequenced.
The genome tests gave Ivana and Antonia the bad
news about calpainopathy. Their younger
https://www.justice.gov/epstein/files/DataSet%209/EFTA00805732.pdf
EFTA00674605Set 9
2011-09-123p1,338w
with him in a clinical trial at the
Mayo Clinic Scottsdale where my entire genome will be sequenced in conjunction of the sequencing of a sample
of the tumor tissue ... Borad of the Mayo Clinic, Scottsdale is below.
The comparative informatics of the two genomes can identify which drugs can work and which may not. More
importantly, because ... science, they are proposing leveraging the billions of dollars that have been invested in genome
sequencing and super-computing to make non obvious drug selections, some of which will
https://www.justice.gov/epstein/files/DataSet%209/EFTA00674605.pdf