Evidence map›Paper›PMID 42856403›Full record

ArticlebioRxiv : the preprint server for biology2026

Pervasive Somatic Mutations in

Daniel A Snellings, Kow Essuman, Benjamin Finander, Eitan Goodman, Christie Cambridge, Jannis Buecking, Brian Chhouk, Chunhui Cai, Liang Sun, Urmi Ghosh and 2 more

Abstract readPreprint
In one paragraph

Article in bioRxiv : the preprint server for biology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

12 authors.

Daniel A SnellingsDivision of Genetics and Genomics and Manton Center for Orphan Disease Research, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.ORCID 0000-0003-0615-9111
Kow EssumanDivision of Genetics and Genomics and Manton Center for Orphan Disease Research, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.ORCID 0000-0002-6781-7248
Benjamin FinanderDivision of Genetics and Genomics and Manton Center for Orphan Disease Research, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.ORCID 0000-0002-8095-6066
Eitan GoodmanDivision of Genetics and Genomics and Manton Center for Orphan Disease Research, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.ORCID 0009-0004-8461-6407
Christie CambridgeDivision of Genetics and Genomics and Manton Center for Orphan Disease Research, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.ORCID 0009-0006-4722-090X
Jannis BueckingDivision of Genetics and Genomics and Manton Center for Orphan Disease Research, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.ORCID 0009-0003-8784-1071
Brian ChhoukDivision of Genetics and Genomics and Manton Center for Orphan Disease Research, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.ORCID 0009-0009-9916-9597
Chunhui CaiResearch Informatics, Boston Children's Hospital, Boston, MA, USA.ORCID 0000-0002-1742-4999
Liang SunResearch Informatics, Boston Children's Hospital, Boston, MA, USA.ORCID 0000-0002-0321-9222
Urmi GhoshDivision of Genetics and Genomics and Manton Center for Orphan Disease Research, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.ORCID 0009-0005-6161-1459
Michael B MillerDivision of Neuropathology, Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.ORCID 0000-0002-6205-3314
Christopher A WalshDivision of Genetics and Genomics and Manton Center for Orphan Disease Research, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.ORCID 0000-0002-0156-2238

Funding

Cell Identity Determination In Human Brain: Somatic Mutation and Cell LineageR01NS032457 · NINDS · BOSTON CHILDREN'S HOSPITAL · PI Alice Eunjung Lee, Christopher A. Walsh · 1995 to 2026
$12.7M
Genetic Analysis and Manipulation Core (GAEC)P50HD105351 · NICHD · BOSTON CHILDREN'S HOSPITAL · PI SCOTT Loren POMEROY, MUSTAFA SAHIN · 2021 to 2026
$9.4M
Illuminating neurodegenerative tauopathy from somatic genomic landscapes of single human brain cellsDP2AG086138 · NIA · BRIGHAM AND WOMEN'S HOSPITAL · PI Michael B Miller · 2023 to 2026
$2.7M
Mechanisms of Somatic Mutation in Alzheimer's Disease Using Single Neuron AnalysisR01AG082346 · NIA · BRIGHAM AND WOMEN'S HOSPITAL · PI Michael B Miller · 2024 to 2026
$2.7M
Development of an Efficient High Throughput Technique for the Identification of High-Impact Non-Coding Somatic Variants Across Multiple Tissue TypesUH3NS132138 · NINDS · BOSTON CHILDREN'S HOSPITAL · PI Peter J Park, Christopher A. Walsh · 2025 to 2026
$1.4M
Investigating the Role of Somatic Mutations in Neurofibromatosis BrainF32NS133029 · NINDS · BOSTON CHILDREN'S HOSPITAL · PI SNELLINGS, DANIEL · 2023 to 2024
$144k
NIA NIH HHS DP2 AG086138NIA NIH HHS R01 AG082346NICHD NIH HHS P50 HD105351NINDS NIH HHS F32 NS133029NINDS NIH HHS R01 NS032457NINDS NIH HHS UH3 NS132138
6 · The paper itself

Abstract

Tumorigenesis is a multi-step process shaped by the accumulation of somatic driver mutations, but identifying the earliest steps and cell of origin of tumorigenesis remains challenging. Single cell genomics in >1.7 million single cells across donors with the cancer predisposition syndrome neurofibromatosis type 1 (NF-1), shows that somatic 'second-hit' mutations in

Identifiers

PMID42856403
PMCPMC13648584

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.