The 100,000 genomes pilot on rare disease diagnosis in healthcare – a preliminary report

The 100,000 genomes pilot on rare disease diagnosis in healthcare – a preliminary report

<p><strong>BACKGROUND:</strong> The UK 100,000 Genomes Project is in the process of investigating the role of genome sequencing of patients with undiagnosed rare disease following usual care, and the alignment of research with healthcare implementation in the UK’s national health s...

Deskribapen osoa

Xehetasun bibliografikoak
Egile Nagusiak:	Smedley, D, Smith, KR, Rueda Martin, A, Buchanan, J, Wordsworth, S, de Burca, A, Davies, J, Crichton, C, Welch, J, Woods, K, Campbell, C, Camps, C, Gibson, K, Lester, T, Patel, S, Roy, NBA, Sen, A, Németh, AH, Taylor, J, Caulfield, M
Beste egile batzuk:	The 100,000 Genomes Project Pilot Investigators
Formatua:	Journal article
Hizkuntza:	English
Argitaratua:	Massachusetts Medical Society 2021

Antzeko izenburuak

Nanoscopy with more than 100,000 'doughnuts'.
nork: Chmyrov, A, et al.
Argitaratua: (2013)

Nanoscopy with more than 100,000 'doughnuts'
nork: Chmyrov, A, et al.
Argitaratua: (2013)

UPM sasar 100,000 pengunjung
nork: Utusan Malaysia,
Argitaratua: (2015)

100,000 warga emas terpinggir
nork: Utusan Malaysia, Noraini Nordin
Argitaratua: (2009)

RM100,000 untuk Cendekia Bitara
nork: Nur Akhmar, Mohd Abhar
Argitaratua: (2009)

Huawei latih 100,000 profesional ICT
nork: Harian Metro,
Argitaratua: (2012)

10 saintis neuro bagi 100,000 penduduk
nork: Mohamad Nor, Khadijah
Argitaratua: (2013)

The $100,000 dream and how to make it come true /
nork: 337678 Norvell
Argitaratua: (1973)

Germantown--a prototype satellite town for 100,000 people
nork: Henriquez, Richard George
Argitaratua: (2011)

A rotary coupling for pressures up to 100,000 psi/
nork: 452657 Smith, F. M.
Argitaratua: (1971)

Sasar 100,000 ahli Kelab TaHA@U
nork: Berita, Harian
Argitaratua: (2011)

Finas sediakan RM100,000 untuk FFVPM8
nork: Berita, Harian
Argitaratua: (2011)

The UK’s 100,000 Genomes Project: manifesting policymakers’ expectations
nork: Gabrielle Natalie Samuel, et al.
Argitaratua: (2017-10-01)

Language did not spring forth 100,000 years ago.
nork: Philip Lieberman
Argitaratua: (2015-02-01)

Zero to 100,000 : social media tips and tricks for small business /
nork: 531650 Gratton, Sarah-Jayne, et al.
Argitaratua: (c201)

1,000 pelajar UPM terima agihan zakat berjumlah RM100,000
nork: Berita Harian, Basir Zahrom
Argitaratua: (2008)

1,000 Pelajar UPM Terima Agihan Zakat Berjumlah RM100,000
nork: Berita Harian, Basir Zahrom
Argitaratua: (2008)

The 100,000 most influential scientists rank: the underrepresentation of Brazilian women in academia
nork: LETICIA DE OLIVEIRA, et al.
Argitaratua: (2021-09-01)

Genomic landscape of adult testicular germ cell tumours in the 100,000 Genomes Project
nork: Ní Leathlobhair, M, et al.
Argitaratua: (2024)

Genomic landscape of adult testicular germ cell tumours in the 100,000 Genomes Project
nork: Máire Ní Leathlobhair, et al.
Argitaratua: (2024-10-01)

RM100,000 sebulan bekalan air bersih ke UUM
nork: Kosmo, Kosmo
Argitaratua: (2011)

UMPSA buka peluang pengajian kepada 100,000 Grab Partners
nork: Fansurina, Abdullah
Argitaratua: (2024)

What Are You Reading? An Analysis of 100,000 Numeracy Article Downloads
nork: Nathan D. Grawe
Argitaratua: (2015-07-01)

Opportunities and Challenges for Molecular Understanding of Ciliopathies–The 100,000 Genomes Project
nork: Gabrielle Wheway, et al.
Argitaratua: (2019-03-01)

A phenome-wide association study of polygenic scores for schizophrenia in 100,000 Chinese adults
nork: Wang, B, et al.
Argitaratua: (2024)

The UK Biobank imaging enhancement of 100,000 participants: Rationale, data collection, management and future directions
nork: Littlejohns, TJ, et al.
Argitaratua: (2020)

Analysis of 100,000 human cancer genomes reveals the landscape of tumor mutational burden
nork: Zachary R. Chalmers, et al.
Argitaratua: (2017-04-01)

Rapid Changes in Strength and Direction of Earth's Magnetic Field Over the Past 100,000 Years
nork: Catherine G. Constable, et al.
Argitaratua: (2024-03-01)

Protocol and quality assurance for carotid imaging in 100,000 participants of UK Biobank: development and assessment.
nork: Coffey, S, et al.
Argitaratua: (2017)

Sasar jual 100,000 alat pengesan kanser servik di Indonesia
nork: Abu Bakar, Suffian
Argitaratua: (2017)

Career journal.com resume guide for $100,000 plus executive jobs /
nork: Montag, William E., 1947-
Argitaratua: (2002)

A comparison of competing explanations for the 100,000-yr ice age cycle
nork: Roe, G, et al.
Argitaratua: (1999)

EPPO, Conflicts and the €100,000 Financial Threshold: 'A Means to Circumvent Investigation?'
nork: Andrew Zuidema
Argitaratua: (2024-12-01)

Corrigendum: Opportunities and Challenges for Molecular Understanding of Ciliopathies–The 100,000 Genomes Project
nork: Gabrielle Wheway, et al.
Argitaratua: (2019-08-01)

BlastFrost: fast querying of 100,000s of bacterial genomes in Bifrost graphs
nork: Nina Luhmann, et al.
Argitaratua: (2021-01-01)

Non-invasive prenatal chromosomal aneuploidy testing--clinical experience: 100,000 clinical samples.
nork: Ron M McCullough, et al.
Argitaratua: (2014-01-01)

Confirmation of the topology of the Wendelstein 7-X magnetic field to better than 1:100,000
nork: T. Sunn Pedersen, et al.
Argitaratua: (2016-11-01)

The UK Biobank imaging enhancement of 100,000 participants: rationale, data collection, management and future directions
nork: Thomas J. Littlejohns, et al.
Argitaratua: (2020-05-01)

PGS analysis of over 100,000 blastocysts using high resolution next generation sequencing
nork: Sawarkar, SS, et al.
Argitaratua: (2017)

Potential for diagnosis of infectious disease from the 100,000 Genomes Project Metagenomic Dataset: recommendations for reporting results
nork: Magiorkinis, G, et al.
Argitaratua: (2019)